Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome.

Rorick NK, Kinoshita A, Weirather JL, Peyrard-Janvid M, de Lima RL, Dunnwald M, Shanske AL, Moretti-Ferreira D, Koillinen H, Kere J, Mansilla MA, Murray JC, Goudy SL, Schutte BC
Am J Med Genet A. 2011 155A (6): 1314-21

PMID: 21574244 · PMCID: PMC3753799 · DOI:10.1002/ajmg.a.33980

MeSH Terms (23)

Abnormalities, Multiple Animals Base Sequence Chromosomes, Human, Pair 1 Cleft Lip Cleft Palate Cloning, Molecular Computational Biology Cysts DNA, Complementary Gene Expression Regulation Humans In Situ Hybridization Interferon Regulatory Factors Lip Mice Microarray Analysis Microtubule-Associated Proteins Molecular Sequence Data Mutation, Missense Proteins Reverse Transcriptase Polymerase Chain Reaction Sequence Analysis, DNA

Connections (1)

This publication is referenced by other Labnodes entities:

Links