Article
CRISPLD2 variants including a C471T silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Jul 2011
Letra Ariadne, Menezes Renato, Cooper Margaret E, Fonseca Renata F, Tropp Stephen, Govil Manika, Granjeiro Jose M, Imoehl Sandra R, Mansilla M Adela, Murray Jeffrey C, Castilla Eduardo E, Orioli Iêda M, Czeizel Andrew E, Ma Lian, Chiquet Brett T, Hecht Jacqueline T, Vieira Alexandre R, Marazita Mary L
Abstract excerpt
OBJECTIVE: To assess the association between nonsyndromic (NS) cleft lip with or without cleft palate (CL(P)) and single-nucleotide polymorphisms (SNPs) within the CRISPLD2 gene (cysteine-rich secretory protein LCCL domain containing 2). DESIGN: Four SNPs within the CRISPLD2 gene domain (rs1546124, rs8061351, rs2326398, rs4783099) were genotyped to test for association via family-based association methods....