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Article

The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population.

Clinical genetics - 1 Jul 2024

Khalaf Tamam, Al Ojaimi Mode, Saleh Dina Amin, Sulaiman Alena, Sohal Aman P, Khan Arif, El-Hattab Ayman W

Abstract excerpt

Exome sequencing (ES) has been utilized in diagnosing children with neurodevelopmental manifestations, this study aimed to investigate the utility of ES in children within a highly consanguineous population that presented with neurodevelopmental complaints. A retrospective chart review was performed for 405 children with neurodevelopmental complaints who have had ES and were evaluated in multiple centers in the...

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Identifiers

PMID: 38438125
DOI: 10.1111/cge.14508

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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