Article
Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants.
Clinical genetics - 1 May 2017
Savastano C P, Brito L A, Faria Á C, Setó-Salvia N, Peskett E, Musso C M, Alvizi L, Ezquina S A M, James C, GOSgene, Beales P, Lees M, Moore G E, Stanier P, Passos-Bueno M R
Abstract excerpt
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a prevalent, complex congenital malformation. Genome-wide association studies (GWAS) on NSCL/P have consistently identified association for the 1p22 region, in which ARHGAP29 has emerged as the main candidate gene. ARHGAP29 re-sequencing studies in NSCL/P patients have identified rare variants; however, their clinical impact is still unclear. In...
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