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Article

Novel Protein-Altering Variants in Cleft Genes Transmitted in Families With NSCL±P.

The Journal of craniofacial surgery - 1 Jun 2026

Awotoye Waheed, Alade Azeez, Busch Tamara, Aladenika Emmanuel, Olujitan Mojisola, Butali Azeez

Abstract excerpt

BACKGROUND: Pathogenic protein-altering variants play a role in the etiology of nonsyndromic cleft lip with or without palate (nsCL±P), one of the most common craniofacial anomalies. However, the genetic basis of many cases remains unclear, complicating risk prediction for affected families. PURPOSE: This study utilized whole-genome sequencing (WGS) of 150 case-families with nsCL±P from sub-Saharan Africa to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40982792
DOI: 10.1097/SCS.0000000000011893

Genes

CHD7
LRP2
RYR1
SHH
WNT3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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