article_metadata: Ghada Abdel-Salam Michaela Thoenes Hanan H Afifi Friederike Körber Daniel Swan Hanno Jörn Bolz
article_metadata: 10.1186/1750-1172-9-12
article_metadata: Orphanet J Rare Dis
article_metadata: 2014 Jan 23;9:12.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/24456803/
article_metadata: Epilepsy / genetics Microcephaly / genetics
article_metadata: 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
article_metadata: PMC3918143
article_metadata: 24456803
article_metadata: The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration
article_metadata: 2014