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Article

Severe CNS involvement in WWOX mutations: Description of five new cases.

American journal of medical genetics. Part A - 1 Dec 2015

Tabarki Brahim, AlHashem Amal, AlShahwan Saad, Alkuraya Fowzan S, Gedela Satyanarayana, Zuccoli Giulio

Abstract excerpt

Recently, mutations in WWOX have been identified in the setting of central nervous system (CNS) disorders, highlighting a previously unrevealed role of this gene in the normal development and function of the CNS. In this report, we add five patients from two seemingly unrelated families presenting with a primarily neurological phenotype. All the children were product of consanguineous marriages. Whole exome...

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Identifiers

PMID: 26345274
DOI: 10.1002/ajmg.a.37363

Genes

WWOX

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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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Severe CNS involvement in WWOX mutations: Description of five new cases.PMID 26345274Read ↗

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