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The Nance–Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology
Nance–Horan syndrome (NHS) is an X-linked developmental disorder, characterized by bilateral congenital cataracts, dental anomalies, facial dysmorphism and mental retardation. Null mutations in a novel gene, NHS, cause the syndrome. The NHS gene appears to have multiple isoforms as a result of alter...
| Autores principales: | , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2876887/ https://www.ncbi.nlm.nih.gov/pubmed/20332100 http://dx.doi.org/10.1093/hmg/ddq125 |