Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1833369 (OFC3)
 7 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clefts of the lip with or without cleft palate (CL/P) are one of the most common birth defects, occurring in 1/700-1/1,000 infants born alive. The nature of the genetic contribution is still to be clarified; however, some chromosome regions and candidate genes have been proposed for this malformation. Recently, a couple of genes, PVR and PVRL2, mapping in the candidate region OFC3 on chromosome 19q13.31, have been investigated because of their homology to PVRL1, a gene previously shown to cause the Margarita Island CL/P-ectodermal dysplasia syndrome. In the present work, we investigated PVR and PVRL2 genes by family-based linkage disequilibrium analysis using a sample collected from the Italian population. In contrast to previous analyses on other populations, we could not find any statistically significant association between the markers alleles and non-syndromic clefting.
Eur J Hum Genet 2007 Sep
PMID:Linkage disequilibrium analysis of two genes mapping on OFC3: PVR and PVRL2. 1753 74