Article
The Mafb cleft-associated variant H131Q is not required for palatogenesis in the mouse.
Developmental dynamics : an official publication of the American Association of Anatomists - 1 Oct 2021
Paul Brian J, Palmer Kristina J, Rhea Lindsey, Carlson Melissa, Sharp Jocelyn C, Pratt C Herbert, Murray Stephen A, Dunnwald Martine
Abstract excerpt
BACKGROUND: Orofacial clefts (OFCs) are common birth defects with complex etiology. Genome wide association studies for OFC have identified SNPs in and near MAFB. MAFB is a transcription factor critical for structural development of digits, kidneys, skin, and brain. MAFB is also expressed in the craniofacial region. Previous sequencing of MAFB in a Filipino population revealed a novel missense variant...
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