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Clinical features associated with an I126M α2-chimaerin mutation in a family with autosomal dominant Duane retraction syndrome
PURPOSE: We describe the clinical phenotype of a Mexican family segregating Duane syndrome as an autosomal dominant trait linked to chromosome 2q31 (DURS2) and previously reported to harbor a heterozygous α2-chimaerinmissense mutation. METHODS: A five-generation Mexican family was analyzed. Ten affe...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2702258/ https://ncbi.nlm.nih.gov/pubmed/19541263 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaapos.2009.03.007 |
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