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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
  • Abdel-Salam, Ghada
  • Thoenes, Michaela
  • Afifi, Hanan H
  • Körber, Friederike
  • Swan, Daniel
  • Bolz, Hanno Jörn
Type
Published Article
Journal
Orphanet Journal of Rare Diseases
Publisher
Springer (Biomed Central Ltd.)
Publication Date
Jan 01, 2014
Volume
9
Pages
12–12
Identifiers
DOI: 10.1186/1750-1172-9-12
PMID: 24456803
Source
Medline
License
Unknown

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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