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Article

Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate.

Human molecular genetics - 21 Jul 2022

Yu Yao, Alvarado Rolando, Petty Lauren E, Bohlender Ryan J, Shaw Douglas M, Below Jennifer E, Bejar Nada, Ruiz Oscar E, Tandon Bhavna, Eisenhoffer George T, Kiss Daniel L, Huff Chad D, Letra Ariadne, Hecht Jacqueline T

Abstract excerpt

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common, severe craniofacial malformation that imposes significant medical, psychosocial and financial burdens. NSCL/P is a multifactorial disorder with genetic and environmental factors playing etiologic roles. Currently, only 25% of the genetic variation underlying NSCL/P has been identified by linkage, candidate gene and genome-wide association...

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Identifiers

PMID: 35147171
DOI: 10.1093/hmg/ddac037
PMCID: PMC9307317

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