Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.

doi:10.1111/ahg.12460

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Article

Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.

Annals of human genetics - 1 Jul 2022

Yahia Ashraf, Ayed Ikhlas Ben, Hamed Ahlam A, Mohammed Inaam N, Elseed Maha A, Bakhiet Aisha M, Guillot-Noel Lena, Abozar Fatima, Adil Rawaa, Emad Sara, Abubaker Rayan, Musallam Mhammed Alhassan, Eltazi Isra Z M, Omer Zulfa, Maaroof Omer M, Soussi Amal, Bouzid Amal, Kmiha Sana, Kamoun Hassen, Salih Mustafa A, Ahmed Ammar E, Elsayed Liena, Masmoudi Saber, Stevanin Giovanni

Abstract excerpt

BACKGROUND: Intellectual disability is a form of neurodevelopmental disorders that begin in childhood and is characterized by substantial intellectual difficulties as well as difficulties in conceptual, social, and practical areas of living. Several genetic and nongenetic factors contribute to its development; however, its most severe forms are generally attributed to single-gene defects. High-throughput...

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PMID: 35118659
DOI: 10.1111/ahg.12460

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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