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HOXA1 mutations are not a common cause of Möbius syndrome
The HOXA1-related syndromes result from autosomal recessive truncating mutations in the homeobox transcription factor, HOXA1. Limited horizontal gaze and sensorineural deafness are the most common features; affected individuals can also have facial weakness, mental retardation, autism, motor disabil...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2862693/ https://ncbi.nlm.nih.gov/pubmed/20227628 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaapos.2009.11.007 |
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