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The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.

Authors
Type
Published Article
Journal
Orphanet journal of rare diseases
Publication Date
Volume
9
Pages
12–12
Identifiers
DOI: 10.1186/1750-1172-9-12
PMID: 24456803
Source
Medline

Abstract

Our finding, a homozygous loss-of-function germline mutation in WWOX in a patient with a lethal autosomal recessive syndrome, supports an alternative role of WWOX and indicates its importance for human viability.

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