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Cohen syndrome
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- Cohen syndrome is an inherited disorder that affects many parts of the body and is characterized by developmental delay, intellectual disability, small head ...
- ... VPS13B gene have been found in individuals with Cohen syndrome. Individuals with this condition typically have intellectual disability, ... truncal obesity). Most of the mutations that cause Cohen syndrome result in a premature stop signal in the ...
- ... dystrophy, deafness and myopia syndrome, Knobloch syndrome, and Cohen syndrome. Because common myopia is a complex condition involving ...
- ... JB, Weksberg R, Graham JM Jr, Viljoen DL, Cohen MM Jr. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am ... a.20474. No abstract available. Citation on PubMed Cohen MM Jr. Proteus syndrome: an update. Am J Med Genet C Semin ...
- ... SYNDROME, DERMATOSPARAXIS TYPE; EDSDERMS EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 1; EDSCLL1 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC ...
- ... 99)70140-7. Citation on PubMed Benson DW, Cohen MI. Wolff-Parkinson-White syndrome: lessons learnt and lessons remaining. Cardiol Young. 2017 ... on PubMed Light PE. Familial Wolff-Parkinson-White Syndrome: a ... Heart Rhythm Society (CHRS); Cohen MI, Triedman JK, Cannon BC, Davis AM, Drago ...
- ... 76. doi: 10.2741/1671. Citation on PubMed Cohen MM Jr. Jackson-Weiss syndrome. Am J Med Genet. 2001 May 15;100( ...
- ... Hall BD, Cadle RG, Golabi M, Morris CA, Cohen MM Jr. Beare-Stevenson cutis gyrata syndrome. Am J Med Genet. 1992 Sep 1;44( ... Carey JC, Hall BD, Stevenson R, Orlow S, Cohen MM Jr, Jabs EW. Fibroblast ... Beare-Stevenson cutis gyrata syndrome. Nat Genet. 1996 Aug;13(4):492-4. ...
- ... 23.0.CO;2-P. Citation on PubMed Cohen WI. Current dilemmas in Down syndrome clinical care: celiac disease, thyroid disorders, and atlanto- ...
- ... Feingold M, Sklower SL, Willner JP, Desnick RH, Cohen MM. Craniosynostosis-radial aplasia: Baller-Gerold syndrome. Am J Dis Child. 1979 Dec;133(12): ...