Identification and functional characterization of novel genes causing syndromic microcephaly. KU Leuven
Microcephalie (MC) in humans is a condition characterized by abnormal small head circumference for the respective age and sex. It can occur as isolated feature (non-syndromic forms) or in combination with other characteristics (syndromic forms). MC is genetically heterogeneous, but some of the non-syndromic forms were explained by mutations in genes implicated in cell division and cell cycle progression, including structural genes involved in ...