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Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome
Cohen syndrome (CS) is an autosomal recessive disease caused by mutations in the COH1 gene. It is characterized by intellectual disability, hypotonia, joint hyperlaxity, severe myopia, characteristic facial dysmorphisms and, in some cases, intermittent isolated neutropenia. We investigated an Italia...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3398820/ https://ncbi.nlm.nih.gov/pubmed/22855652 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000338816 |
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