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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2006
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Electronic Letter
Accesso online: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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