An autosomal dominant syndrome of uveal colobomata, cleft lip and palate, and mental retardation.
This report details a family in whom there is autosomal dominantly inherited uveal colobomata, associated eye defects, and cleft lip and palate occurring in twelve subjects over three generations. Considerable variability in expression of the gene is apparent, uveal colobomata being the most constan...
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| Publicado no: | J Med Genet |
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| Principais autores: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
1982
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1048959/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7154042/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.19.6.444 |
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