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Mutation Analysis of the PVRL1 Gene in Caucasians with Nonsyndromic Cleft Lip/Palate
Nonsyndromic cleft lip with or without cleft palate (nsCL/P, MIM 119530) is perhaps the most common major birth defect. Homozygous PVRL1 loss-of-function mutations result in an autosomal recessive CL/P syndrome, CLPED1, and a PVRL1 nonsense mutation is associated with sporadic nsCL/P in Northern Ven...
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| Autori principali: | , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Mary Ann Liebert, Inc.
2009
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2953240/ https://ncbi.nlm.nih.gov/pubmed/19715471 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/gtmb.2009.0052 |
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