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Article

Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder.

Scientific reports - 2 Jan 2025

Bouzid Amal, Belcadhi Malek, Souissi Amal, Chelly Meryam, Frikha Fakher, Gargouri Hela, Bonnet Crystel, Jebali Fida, Loukil Salma, Petit Christine, Masmoudi Saber, Hamoudi Rifat, Ben Said Mariem

Abstract excerpt

Developmental language disorder (DLD) is a neurodevelopmental disorder involving impaired language abilities. Its genetic etiology is heterogeneous, involving rare variations in multiple susceptibility loci. However, family-based studies on gene mutations are scarce. We performed whole-exome sequencing (WES) of a first-time-described Tunisian-family with DLD. Analyses of segregation patterns with stringent...

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PMID: 39747128
DOI: 10.1038/s41598-024-83115-x
PMCID: PMC11696457

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