AARSKOG SYNDROME
Harper PS. Practical genetic counselling, 6th edition, pag. 235. Ed. Arnold.
Moraes SG, Guerra-Junior G, Maciel-Guerra AT. Female counterpart of shawl scrotum in Aaeskog-Scott sindrome. Pediatric Urology 2006;32(4):459-461.
Orrico A, Galli L, Obregon MG, de Castro Perez MF, Falciani M, Sorrentino V. Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. Am J Med Genet A. 2007 Jan 1;143(1):58-63.
Orrico A, Galli L, Faivre L, Clayton-Smith J, Azzarello-Burri SM, Hertz JM, Jacquemont S, Taurisano R, Arroyo Carrera I,
Tarantino E, Devriendt K, Melis D, Thelle T, Meinhardt U, Sorrentino V. Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. Am J Med Genet A. 2010 Feb;152A(2):313-8.
Darendeliler F, Larsson P, Neyzi O, Price AD, Hagenäs L, Sipilä I, Lindgren AC, Otten B, Bakker B; KIGS International Board.
Growth hormone treatment in Aarskog syndrome: analysis of the KIGS (Pharmacia International Growth Database) data. J Pediatr Endocrinol Metab. 2003 Oct-Nov;16(8):1137-42.
Petryk A, Richton S, Sy JP, Blethen SL. The effect of growth hormone treatment on stature in Aarskog syndrome. J Pediatr Endocrinol Metab. 1999 Mar-Apr;12(2):161-5.
ACROMICRIC DYSPLASIA
Faivre L, Le Merrer M, Baumann C, Polak M, Chatelain P, Sulmont V, Cousin J, Bost M, Cordier MP, Zackai E, Russell K, Finidori G, Pouliquen JC, Munnich A, Maroteaux P, Cormier-Daire V. Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. J Med Genet. 2001; 38(11):745-9.
ADENYLSUCCINASE DEFICIENCY
Spiegel EK, Colman RF, Patterson D. Adenylosuccinate lyase deficiency.Mol Genet Metab. 2006 89(1-2):19-31.
Jurkiewicz E, Mierzewska H, Kusmierska K. Adenylosuccinate lyase deficiency: The first identified polish patient. Brain Dev. 2007 29(9):600-602.
ALPHA-MANNOSIDOSIS
Exhaustive updated description at www.genereviews.org
ANIRIDIA
Exhaustive updated description at www.genereviews.org
ANTLEY-BIXLER SYNDROME
Exhaustive updated description at www.genereviews.org
ATAXIA-TELEANGECTASIA
Exhaustive updated description at www.genereviews.org
BECKWITH-WIEDEMANN SYNDROME
Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2010 Jan;18(1):8-14. Epub . Review.PMID: 19550435
BETA-MANNOSIDOSIS
Detailed history and description at http://www.ncbi.nlm.nih.gov/omim/248510 (MIM number: 248510)
CANAVAN DISEASE
Velinov, M.; Zellers, N.; Styles, J.; Wisniewski, K. Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan’s disease. (Letter) Clin. Genet. 73: 288-289, 2008.
CEREBELLAR AGENESIS
Ten Donkelaar HJ, Lammens M. Development of the human cerebellum and its disorders. Clin Perinatol. 2009; 36(3):513-30. PMID: 19732611
CEROIDOLIPOFUSCINOSIS (KUFS DISEASE)
Exhaustive updated description at www.genereviews.org
CHARGE SYNDROME
Exhaustive updated description at www.genereviews.org
CLEIDOCRANIC DYSPLASIA
Exhaustive updated description at www.genereviews.org
COFFIN-LOWRY SYNDROME
Exhaustive updated description at www.genereviews.org
COFFIN-SIRIS SYNDROME
Detailed history and description at http://www.ncbi.nlm.nih.gov/omim/ (MIM number: 135900)
CONGENITAL ICHTHYOSIS
Exhaustive updated description at www.genereviews.org
CROUZON DISEASE
Detailed history and description at http://www.ncbi.nlm.nih.gov/omim/ (MIM number: 123500)
DIGEORGE SYNDROME
Exhaustive updated description at www.genereviews.org
DYGGVE-MELCHIOR-CLAUSEN SYNDROME
Detailed history and description at http://www.ncbi.nlm.nih.gov/omim/ (MIM numbers: 223800, 304950, 313400)
DYSCHONDROSTEOSIS (LERY-WEILL SYNDROME)
Exhaustive updated description at www.genereviews.org
DYSERYTHROPEIETIC ANAEMIA
Zdebska E, Iolascon A, Spychalska J, Perrotta S, Lanzara C, Smolenska-Sym G, Koscielak J. Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene. Haematologica. 2007 92(3):427-8
Wickramasinghe SN, Wood WG. Advances in the understanding of the congenital dyserythropoietic anaemias. Br J Haematol. 2005 131(4):431-46.
Heimpel H, Anselstetter V, Chrobak L, Denecke J, Einsiedler B, Gallmeier K, Griesshammer A, Marquardt T, Janka-Schaub G, Kron M, Kohne E. Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation. Blood. 2003 15;102(13):4576-81.
DYSPLASIA EPIPHYSEALIS HEMIMELICA
Acquaviva A, Municchi G, Marconcini S, Mazzarella F, Occhini R, Toti P, Mazzei MA, Volterrani L. Dysplasia epiphysealis hemimelica in a young girl: role of MRI in the diagnosis and follow-up. Joint Bone Spine. 2005 Mar;72(2):183-6.
Connor JM, Horan FT, Beighton P. Dysplasia epiphysialis hemimelica. A clinical and genetic study. J Bone Joint Surg Br. 1983 May;65(3):350-4.
Freihaut RB, O’Keane JC, Stephens MM. Dysplasia epiphysealis hemimelica with associated osteochondral lesion of the talus: a case report and review of the literature. Foot Ankle Int. 2007 Jun;28(6):727-30.
Glick R, Khaldi L, Ptaszynski K, Steiner GC. Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones. Hum Pathol. 2007 Aug;38(8):1265-72. Epub 2007 May 8.
Golli M, Jellali MA, Hmida B, Jazaerli N, Younes M, Salem R, Hafsa C, Zrig A, Bergaoui N. [Dysplasia epiphysealis hemimelica: a rare cause of ankle pain in children].Arch Pediatr. 2009 Oct;16(10):1374-7. Epub 2009 Aug 15.
Karam AR, Birjawi GA, Saghieh S, Tawil A, Khoury NJ. Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement. Skeletal Radiol. 2008 Dec;37(12):1147-52. Epub 2008 Sep 23.
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Detailed history and description at http://www.ncbi.nlm.nih.gov/omim/ (MIM number: 127800)
EPIDERMOLYTIC HYPERKERATOSIS (BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA)
Find complete description and useful clinical advice about this disease at www.emedicine.com
ERYTHROKERATODERMIA VARIABILIS
Schnichels M, Worsdorfer P, Dobrowolski R, Markopoulos C, Kretz M, Schwarz G, Winterhager E, Willecke K. The connexin31 F137L mutant mouse as a model for the human skin disease erythrokeratodermia variabilis (EKV). Hum Mol Genet. 2007; 16(10):1216-24.
Galadari I, Galadari H. Case study: erythrokeratodermia variabilis. Skinmed. 2004;3(4):231-2.
ERYTHROKERATOLYSIS HIEMALIS (KERATOLITIC WINTER ERYTEMA)
Danielsen AG, Weismann K, Thomsen HK. Erythrokeratolysis hiemalis (keratolytic winter erythema): a case report from Denmark. J Eur Acad Dermatol Venereol. 2001; 15(3):255-6.
Starfield M, Hennies HC, Jung M, Jenkins T, Wienker T, Hull P, Spurdle A, Küster W, Ramsay M, Reis A. Localization of the gene causing keratolytic winter erythema to chromosome 8p22-p23, and evidence for a founder effect in South African Afrikaans-speakers. Am J Hum Genet. 1997; 61(2):370
FACTOR V LEIDEN THROMBOPHILIA
Exhaustive updated description at www.genereviews.org
FAMILIAL CAMPTODACTILY
Detailed history and description at http://www.ncbi.nlm.nih.gov/omim/114200 (MIM number: 114200)
FARBER DISEASE
Ehlert K, Frosch M, Fehse N, Zander A, Roth J, Vormoor J. Farber disease: clinical presentation, pathogenesis and a new approach to treatment. Pediatr Rheumatol Online J. 2007 29;5:15.
Park JH, Schuchman EH. Acid ceramidase and human disease. Biochim Biophys Acta. 2006 1758(12):2133-8.
FEMORO-FACIAL SYNDROME
Sabry MA, Obenbergerova D, Al.Sawan R, AL Saleh Q, Farah S, AL-Awadi SA, Farag TI. Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby. J Med Genet 1996, 33:165-167.
Leal E, Marcia-Gomez N, Rodrigues L, Miguel Mercado F, Barros-Nunez P. Femoro-facial syndrome with malformations in the central nervous system. J of Clinical Imagins 2003, 27: 23-26.
Paladini D, Maruotti GM, Sglavo G, Penner I, Leone F, D'Armiento MR, Martinelli P. Diagnosis of femoral hypoplasia-unusual facies syndrome in the fetus. Ultrasound Obstet Gynecol. 2007; 30(3):354-8. Review.
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Detailed history and description at http://www.ncbi.nlm.nih.gov/omim/134780 (MIM number: 134780)
FREEMAN-SHELDON SYNDROME
Corrigan LA, Duncan CA, Gregg TA. Freeman-Sheldon syndrome: a case report.Int J Paediatr Dent. 2006; 16(6):440-3.
FRYNS SYNDROME
Exhaustive updated description at www.genereviews.org
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Detailed history and description at http://www.ncbi.nlm.nih.gov/omim/229850 (MIM number: 229850)
GOLDENHAR SYNDROME
Hartsfield JK. Review of the etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (Hemifacial Microsomia). Orthod Craniofac Res. 2007; 10(3):121-8.
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Detailed history and description at http://www.ncbi.nlm.nih.gov/omim/164210 (MIM number: 164210)
HALLERMAN-STREIFF SYNDROME
Pizzuti A, Flex E, Mingarelli R, Salpietro C, Zelante L, Dallapiccola B. A homozygous GJA1 gene mutation causes a
Hallermann-Streiff/ODDD spectrum phenotype. Hum Mutat. 2004 Mar;23(3):286.
Mirshekari A, Safar F. Hallermann-Streiff syndrome: a case review. Clin Exp Dermatol. 2004 Sep;29(5):477-9. Review.PMID: 15347328
David LR, Finlon M, Genecov D, Argenta LC. Hallermann-Streiff syndrome: experience with 15 patients and review of the literature. J Craniofac Surg. 1999 Mar;10(2):160-8. Review.PMID: 10388418
David LR, Finlon M, Genecov D, Argenta LC. Hallermann-Streiff syndrome: experience with 15 patients and review of the literature. J Craniofac Surg. 1999 Mar;10(2):160-8. Review. PMID: 10388418
Harper PS, Practical Genetic Counselling, 6th edition, Hodder-Arnold ed. 2004.
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Detailed history and description at http://www.ncbi.nlm.nih.gov/omim/234100 (MIM number: 234100)
JEJUNAL ATRESY (APPLE PEEL SYNDROME)
Detailed history and description at http://www.ncbi.nlm.nih.gov/omim/243600 (MIM number: 243600)
KABUKI MAKE-UP SYNDROME
Iida T, Park S, Kato K, Kitano I. Cleft palate in Kabuki syndrome: a report of six cases. Cleft Palate Craniofac J. 2006; 43(6):756-61. PMID: 17105332
Sakurai H, Nozaki M, Takeuchi M, Soejima K, Kajimoto M, Hori S. Periorbital correction in Kabuki syndrome. Plast Reconstr Surg. 2003; 111(4):1461-4. No abstract available. PMID: 12618605
Blanco-Dávila F, Olveda-Rodriguez JA. Cleft palate in a patient with Williams’ syndrome. J Craniofac Surg. 2001; 12(2):145-7. PMID: 11314625
Harper PS. Practical genetic counselling. Sixth edition. 2004, Arnold Hodder Publishing Group.
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Detailed history and description at http://www.ncbi.nlm.nih.gov/omim/147920 (MIM number: 147920)
KALLMANN SYNDROME
Exhaustive updated description at www.genereviews.org
KLINEFELTER SYNDROME
Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. Klinefelter’s syndrome. Lancet 2004;364(9430):273-83.
KLIPPEL-TRENAUNAY SYNDROME
Detailed history and description at http://www.ncbi.nlm.nih.gov/omim/149000 (MIM number: 149000)
KRABBE DISEASE
Escolar ML, Poe MD, Provenzale JM, Richards KC, Allison J, Wood S, Wenger DA, Pietryga D, Wall D, Champagne M, Morse R, Krivit W, Kurtzberg J. Transplantation of umbilical-cord blood in babies with infantile Krabbe’s disease. N Engl J Med. 2005 May 19;352(20):2069-81. PMID: 15901860.
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Exhaustive updated description at www.genereviews.org
LEBER OPTIC ATROPHY
Exhaustive updated description at www.genereviews.org
MARSHALL-SMITH SYNDROME
Machotta A, Hoeve H. Airway management and fiberoptic tracheal intubation via the laryngeal mask in a child with
Marshall-Smith syndrome. Paediatr Anaesth. 2008; 18(4):341-2.
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Detailed history and description at http://www.ncbi.nlm.nih.gov/omim/602535 (MIM number: 602535)
MUCOPOLYSACCHARIDOSIS
Maire I, Froissart R, Mucopolisaccaridosi tipo 2, Mucopolisaccaridosi tipo 3,Mucopolisaccaridosi tipo 4,Mucopolisaccaridosi tipo 6,Mucopolisaccaridosi tipo 7,, Feb 2007, on www.orpha.net, accessed on 25 Sep 2008.
Shih SL, Lee YJ, Lin SP, Sheu CY, Blickman JG. Airway changes in children with mucopolysaccharidoses. Acta Radiol. 2002;43(1):40-3.
Santamaria F, Andreucci MV, Parenti G, Polverino M, Viggiano D, Montella S, Cesaro A, Ciccarelli R, Capaldo B, Andria G.
Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings. J Inherit Metab Dis. 2007; 30(5):743-9.
Thomas JA, Jacobs S, Kierstein J, Van Hove J. Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome. J Inherit Metab Dis. 2006 Dec;29(6):762. Epub 2006 Nov 6.
Pastores GM. Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I. Expert Opin Biol Ther. 2008; 8(7):1003-9.
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MYOCLONIC DYSTONIA (HEREDITARY ESSENTIAL MYOCLONUS)
Kinugawa K, Vidailhet M, Clot F, Apartis E, Grabli D, Roze E. Myoclonus-dystonia: An update. Mov Disord. 2008 Dec 31. PMID: 19117361
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Detailed history and description at http://www.ncbi.nlm.nih.gov/omim/159900 (MIM number: 159900)
NOONAN SYNDROME
Callahan MP, Pham T, Rashbaum I, Pineda H, Greenspan N. Cardiopulmonary rehabilitation in a patient with Noonan syndrome. Arch Phys Med Rehabil. 2000 Feb;81(2):230-2.
Huang HC, Wang TJ, Huang CB. Noonan syndrome presented with cystic hygroma and chylothorax: case report.
Changgeng Yi Xue Za Zhi. 1999;22(2):313-8.
Chan DK, Ho NK. Noonan syndrome with spontaneous chylothorax at birth. Aust Paediatr J. 1989;25(5):296-8.
Lohmann DR, Gillessen-Kaesbach G. Multiple subcutaneous granular-cell tumours in a patient with Noonan syndrome. Clin Dysmorphol. 2000 Oct;9(4):301-2.
Fryssira H, Leventopoulos G, Psoni S, Kitsiou-Tzeli S, Stavrianeas N, Kanavakis E. Tumor development in three patients with Noonan syndrome. Eur J Pediatr. 2008 Sep;167(9):1025-31. Epub 2007 Dec 5.
Rose B, Tamvakopoulos GS, Yeung E, Pollock R, Skinner J, Briggs T, Cannon S. Granular cell tumours: a rare entity in the musculoskeletal system. Sarcoma. 2009;2009:765927.
OCULO-DENTO-DIGITAL DYSPLASIA (ODDD SYNDROME)
Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW. GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat. 2009 May;30(5):724-33.
Loddenkemper T, Grote K, Evers S, Oelerich M, Stögbauer F.Neurological manifestations of the oculodentodigital dysplasia syndrome.J Neurol. 2002 May;249(5):584-95.
Pizzuti A, Flex E, Mingarelli R, Salpietro C, Zelante L, Dallapiccola B. A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype. Hum Mutat. 2004 Mar;23(3):286.
OCULO-PHARYNGEAL MUSCOLAR DYSTROPHY (BARBEAU DISEASE)
Brais B. Oculopharyngeal muscular distrophy: a polyalanine myopathy. Curr Neurol Neurosci Rep. 2009; 9(1):76-82.
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Brief description at www.orpha.net
PACHYDERMOPERIOSTOSIS (TOURAINE-SOLENTE-GOLÈ SYNDROME)
Castori M, Sinibaldi L, Mingarelli R, Lachman RS, Rimoin DL, Dallapiccola B. Pachydermoperiostosis: an update. Clin Genet. 2005; 68(6):477-86
PALLISTER-HALL SYNDROME
David Ng, Jennifer J Johnston, Joyce T Turner, Eilis A Boudreau, Edythe A Wiggs, William H Theodore and Leslie G. Biesecker. Gonadal Mosaicism in Severe Pallister–Hall Syndrome. American Journal of Medical Genetics 124A:296–302 (2004).
Grebe TA, Clericuzio C. Autosomal dominant inheritance of hypothalamic hamartoma associated with polysyndactyly: heterogeneity or variable expressivity? Am J Med Genet. 1996 Dec 11;66(2):129-37.
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Exhaustive updated description at www.genereviews.org
PALLISTER-KILLIAN SYNDROME
Baglaj M, King J, Carachi R. Pallister-Killian syndrome: a report of 2 cases and review of its surgical aspects. J Pediatr Surg. 2008 Jun;43(6):1218-21. Review. PMID: 18558213.
Zenker M. Diagnosis of FS should not be made until PKS is ruled out. Am J Med Genet 2001;102:306.
Book chapter, Pallister-Killian Syndrome, Atlas of Genetic Diagnosis and Counseling.
Kunz J, Schoner K, Stein W, rehder, Fritz B. tetrasomy 12p (Pallister-Killian syndrome): difficulties in prenatal diagnosis. Arch Gynecol Obstet 2009;280:1049-1053.
PALLISTER W SYNDROME
Goizet, C., Bonneau, D., Lacombe, D. W syndrome: report of three cases and review. Am. J. Med. Genet. 87: 446-449, 1999. [PubMed: 10594887]
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Detailed history and description at http://www.ncbi.nlm.nih.gov/omim/311450 (MIM number: 311450)
PROGRESSIVE MYOCLONUS EPILEPSY
Exhaustive updated description at www.genereviews.org
PROGRESSIVE SYMMETRIC ERYTHROKERATODERMIA
Cui Y, Yang S, Gao M, Zhou WM, Li M, Wang Y, Chen JJ, Yan KL, Niu ZM, Wang PG, Xiao FL, Liang YH, Sun LD, Fan X, Huang W, Zhang XJ. Identification of a novel locus for progressive symmetric erythrokeratodermia to a 19.02-cM interval at 21q11.2-21q21.2. J Invest Dermatol. 2006; 126(9):2136-9.
Cui Y, Yang S, He PP, Zhou WM, Li M, Gao M, Chen JJ, Yan KL, Xiao FL, Xu SJ, Huang W, Zhang XJ. Progressive symmetric erythrokeratodermia: report of a Chinese family and evidence for genetic heterogeneity. J Dermatol Sci. 2004; 35(3):233-5.
SCAPULO-PERONEAL AMIOTROPHY (STARK-KAESER SYNDROME)
Walter MC, Reilich P, Huebner A, Fischer D, Schroder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmuller H. Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. Brain. 2007 130(Pt 6):1485-96.
SCHINZEL-GIEDION SYNDROME
Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet. 2010 Jun;42(6):483-5. Epub 2010 May 2. PMID: 20436468
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Detailed history and description at http://www.ncbi.nlm.nih.gov/omim/269150 (MIM number: 269150)
SMITH-LEMLI-OPITZ SYNDROME
Exhaustive updated description at www.genereviews.org
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Detailed history and description at http://www.ncbi.nlm.nih.gov/omim/270400 (MIM number: 270400)
SPINOCEREBELLAR ATAXIA
Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, Plevani P, Di Donato S, Muzi-Falconi M, Taroni F.Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.Nat Genet. 2010 Mar 7. [Epub ahead of print]PMID: 20208537.
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Exhaustive updated description at www.genereviews.org
SPONDYLOEPIPHYSEALIS DYSPLASIA
Exhaustive updated description at www.genereviews.org
SUMMITT SYNDROME
Cohen DM, Green JG, Miller J, Gorlin RJ, Reed JA. Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes. Am J Med Genet. 1987; 28(2):311-24. Review.
Gershoni-Baruch R. Carpenter syndrome: marked variability of expression to include the Summitt and Goodman syndromes. Am J Med Genet. 1990; 35(2):236-40.
Pierquin G, Seligmann R, Van Regemorter N. Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome? Genet Couns. 1992; 3(2):101-5.
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Brief summary at http://www.ncbi.nlm.nih.gov/omim/272350 (MIM number: 272350)
TREACHER-COLLINS SYNDROME
Exhaustive updated description at www.genereviews.org
TURNER SYNDROME
Bondy CA; Turner Syndrome Study Group. Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007; 92(1):10-25
Morgan T. Turner syndrome: diagnosis and management. Am Fam Physician. 2007; 76(3):405-10. Review.
Ross J, Roeltgen D, Zinn A. Cognition and the sex chromosomes: studies in Turner syndrome. Horm Res. 2006; 65(1):47-56. Review.
Skuse DH, James RS, Bishop DV, Coppin B, Dalton P, Aamodt-Leeper G, Bacarese-Hamilton M, Creswell C, McGurk R, Jacobs PA. Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function. Nature. 1997; 387(6634):705-8.
Ranke MB, Saenger P. Turner's syndrome. Lancet. 2001; 358(9278):309-14. Review.
