Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

Cohen syndrome (CS) is an autosomal recessive disorder with variability in the clinical manifestations, characterised by mental retardation, postnatal microcephaly, facial dysmorphism, pigmentary retinopathy, myopia, and intermittent neutropenia. Mutations in the gene COH1 have been found in an ethn...

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書誌詳細
主要な著者: Seifert, W, Holder‐Espinasse, M, Spranger, S, Hoeltzenbein, M, Rossier, E, Dollfus, H, Lacombe, D, Verloes, A, Chrzanowska, K H, Maegawa, G H B, Chitayat, D, Kotzot, D, Huhle, D, Meinecke, P, Albrecht, B, Mathijssen, I, Leheup, B, Raile, K, Hennies, H C, Horn, D
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Group 2006
主題:
Electronic Letter
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564527/
https://ncbi.nlm.nih.gov/pubmed/16648375
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.039867
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