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

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Abdel Salam, Ghada ^a   Thoenes, Michaela ^b   Afifi, Hanan H ^a   Körber, Friederike ^c   Swan, Daniel ^d   Bolz, Hanno Jörn ^b,e  

^a NATIONAL RESEARCH CENTRE   (Egypt)

^b UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

^d OXFORD GENE TECHNOLOGY   (United Kingdom)

^e Center for Human Genetics   (Germany)

Author keywords

Epilepsy; Microcephaly; Nonsense mutation; Retinal degeneration; Tumor suppressor gene; Whole exome sequencing; WWOX

Indexed keywords

EPILEPSY; HUMANS; INFANT; MICROCEPHALY; MUTATION; OXIDOREDUCTASES; RETINAL DEGENERATION; TUMOR SUPPRESSOR PROTEINS;

EID: 84892714706     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-9-12     Document Type: Article

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