Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting.

doi:10.1016/j.gim.2023.100918

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Article

Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2023

Diaz Perez Kimberly K, Curtis Sarah W, Sanchis-Juan Alba, Zhao Xuefang, Head Taylor, Ho Samantha, Carter Bridget, McHenry Toby, Bishop Madison R, Valencia-Ramirez Luz C, Restrepo Claudia, Hecht Jacqueline T, Uribe Lina M, Wehby George, Weinberg Seth M, Beaty Terri H, Murray Jeffrey C, Feingold Eleanor, Marazita Mary L, Cutler David J, Epstein Michael P, Brand Harrison, Leslie Elizabeth J

Abstract excerpt

PURPOSE: Orofacial clefts (OFCs) are common birth defects including cleft lip, cleft lip and palate, and cleft palate. OFCs have heterogeneous etiologies, complicating clinical diagnostics because it is not always apparent if the cause is Mendelian, environmental, or multifactorial. Sequencing is not currently performed for isolated or sporadic OFCs; therefore, we estimated the diagnostic yield for 418 genes in...

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PMID: 37330696
DOI: 10.1016/j.gim.2023.100918
PMCID: PMC10592535

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