Article
Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes.
Genetic epidemiology - 1 Dec 2017
Carlson Jenna C, Standley Jennifer, Petrin Aline, Shaffer John R, Butali Azeez, Buxó Carmen J, Castilla Eduardo, Christensen Kaare, Deleyiannis Frederic W-D, Hecht Jacqueline T, Field L Leigh, Garidkhuu Ariuntuul, Moreno Uribe Lina M, Nagato Natsume, Orioli Ieda M, Padilla Carmencita, Poletta Fernando, Suzuki Satoshi, Vieira Alexandre R, Wehby George L, Weinberg Seth M, Beaty Terri H, Feingold Eleanor, Murray Jeffrey C, Marazita Mary L, Leslie Elizabeth J
Abstract excerpt
Orofacial clefts (OFCs) are common, complex birth defects with extremely heterogeneous phenotypic presentations. Two common subtypes-cleft lip alone (CL) and CL plus cleft palate (CLP)-are typically grouped into a single phenotype for genetic analysis (i.e., CL with or without cleft palate, CL/P). However, mounting evidence suggests there may be unique underlying pathophysiology and/or genetic modifiers...
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