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Article

High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects.

American journal of medical genetics. Part A - 1 Jul 2022

Munabi Naikhoba C O, Mikhail Shady, Toubat Omar, Webb Michelle, Auslander Allyn, Sanchez-Lara Pedro A, Manojlovic Zarko, Schmidt Ryan J, Craig David, Magee William P, Kumar Subramanyan Ram

Abstract excerpt

Our previous work demonstrating enrichment of outflow tract (OFT) congenital heart disease (CHD) in children with cleft lip and/or palate (CL/P) suggests derangements in common underlying developmental pathways. The current pilot study examines the underlying genetics of concomitant nonsyndromic CL/P and OFT CHD phenotype. Of 575 patients who underwent CL/P surgery at Children's Hospital Los Angeles, seven with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35385219
DOI: 10.1002/ajmg.a.62748
PMCID: PMC9197864

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