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Article

Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.

Journal of medical genetics - 1 Jun 2015

Ben-Omran Tawfeg, Fahiminiya Somayyeh, Sorfazlian Natalie, Almuriekhi Mariam, Nawaz Zafar, Nadaf Javad, Khadija Kitam Abu, Zaineddin Samiha, Kamel Hussein, Majewski Jacek, Tropepe Vincent

Abstract excerpt

BACKGROUND: Neuroanatomical defects are often present in children with severe developmental delay and intellectual disabilities. Few genetic loci have been associated with disorders of neurodevelopment. Our objective of the present study was to analyse a consanguineous Arab family showing some of the hallmark signs of a rare cerebellar hypoplasia-related neurodevelopmental syndrome as a strategy for discovering a...

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PMID: 25873735
DOI: 10.1136/jmedgenet-2014-102707

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.PMID 25873735Read ↗

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