Ghada Abdel-Salam Michaela Thoenes Hanan H Afifi Friederike Körber Daniel Swan Hanno Jörn Bolz
10.1186/1750-1172-9-12
Orphanet J Rare Dis
2014 Jan 23;9:12.
CC BY
https://pubmed.ncbi.nlm.nih.gov/24456803/
Epilepsy / genetics Microcephaly / genetics
Epilepsy / genetics Microcephaly / genetics Case Reports Research Support, Non-U.S. Gov't Humans Infant Mutation Oxidoreductases / genetics Retinal Degeneration / genetics Tumor Suppressor Proteins / genetics WW Domain-Containing Oxidoreductase Tumor Suppressor Proteins Oxidoreductases WW Domain-Containing Oxidoreductase WWOX protein, human
PMC3918143
24456803
The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration
2014