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Article

Genetic heterogeneity in Van der Woude syndrome: identification of NOL4 and IRF6 haplotype from the noncoding region as candidates in two families.

Journal of genetics - 1 Mar 2018

Kumari Priyanka Kumari, Ali Akhtar, Singh Subodh Kumar, Chaurasia Amit, Raman Rajiva

Abstract excerpt

Van der Woude syndrome (VWS) shows an autosomal dominant pattern of inheritance with two known candidate genes, IRF6 and GRHL3. In this study, by employing genome-wide linkage analyses on two VWS affected families, we report the cosegregation of an intronic rare variant in NOL4 in one family, and a haplotype consisting of three variants in the noncoding region of IRF6 (introns 1, 8 and 3'UTR) in the other family....

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Identifiers

PMID: 29666346

Genes

NOL4
GRHL3

Provenance

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