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Article

Identification of Novel and Rare Gene Variants in Cleft Lip/Palate Patients From Kuwaiti Consanguineous Families by Exome Sequencing.

American journal of medical genetics. Part A - 1 Feb 2026

Alkharafi Lateefa, Al-Bustan Suzanne, Alkanderi Sumaya, Elshafie Reem M, Dannoun Heba, Alrohaif Hadil, Elshafey Alaa-Eldin, Alwadani Amal, Alhasawi Saud, Aljeraiwi Nour, Alotaibi Khaled, Hamdan Hala, Vaka Dedeepya, Hodoglugil Ugur, Boffelli Dario, Diaz Perez Kimberly K, Leslie-Clarkson Elizabeth J, Klein Ophir D

Abstract excerpt

The prevalence of Cleft Lip with or without Cleft Palate (CLP) varies by geography and ethnicity, particularly in consanguineous populations. This study aimed to identify gene variants contributing to the development of both syndromic (SCLP) and non-syndromic (NSCLP) forms of the condition in 20 consanguineous Kuwaiti families. We used exome sequencing and assessed the variants' predicted functional roles. Seven...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41041957
DOI: 10.1002/ajmg.a.64268

Genes

DUOX1
MSX2
SH3PXD2A
ACACB
TP63

Provenance

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

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Identification of Novel and Rare Gene Variants in Cleft Lip/Palate Patients From Kuwaiti Consanguineous Families by Exome Sequencing.PMID 41041957Read ↗

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