ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant

ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant

Abstract Biallelic variants in the adenosine deaminase tRNA specific 3 (ADAT3) gene are associated with a distinct neurodevelopmental disorder characterized by dysmorphic facies, poor growth, cognitive impairment, and variable brain anomalies. We describe 24 patients from 16 unrelated Egyptian famil...

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Bibliographic Details
Main Authors: Karima Rafat, Asmaa F. Abdel-Aleem, Hasnaa M. Elbendary, Mahmoud Y. Issa, Mona L. Essawi, Sherif F. Abdel-Ghafar, Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid, Maha S. Zaki
Format: Article
Language:English
Published: Nature Portfolio 2025-06-01
Series:Scientific Reports
Subjects:
ADAT3
Neurodevelopmental disorder
Dysmorphic facies
Novel variants
Egyptian patients
Founder effect
Online Access:https://doi.org/10.1038/s41598-025-06857-2
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https://doi.org/10.1038/s41598-025-06857-2

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