Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome

Cohen syndrome is a rare autosomal recessive disorder with a variable clinical picture mainly characterized by developmental delay, mental retardation, microcephaly, typical facial dysmorphism, progressive pigmentary retinopathy, severe myopia, and intermittent neutropenia. A Cohen syndrome locus wa...

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Bibliografski detalji
Glavni autori: Hennies, Hans Christian, Rauch, Anita, Seifert, Wenke, Schumi, Christian, Moser, Elisabeth, Al-Taji, Eva, Tariverdian, Gholamali, Chrzanowska, Krystyna H., Krajewska-Walasek, Malgorzata, Rajab, Anna, Giugliani, Roberto, Neumann, Thomas E., Eckl, Katja M., Karbasiyan, Mohsen, Reis, André, Horn, Denise
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 2004
Teme:
Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1181997/
https://ncbi.nlm.nih.gov/pubmed/15154116
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