Article
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
American journal of human genetics - 3 Dec 2015
Shamseldin Hanan, Alazami Anas M, Manning Melanie, Hashem Amal, Caluseiu Oana, Tabarki Brahim, Esplin Edward, Schelley Susan, Innes A Micheil, Parboosingh Jillian S, Lamont Ryan, Majewski Jacek, Bernier Francois P, Alkuraya Fowzan S
Abstract excerpt
Primary microcephaly is a developmental brain anomaly that results from defective proliferation of neuroprogenitors in the germinal periventricular zone. More than a dozen genes are known to be mutated in autosomal-recessive primary microcephaly in isolation or in association with a more generalized growth deficiency (microcephalic primordial dwarfism), but the genetic heterogeneity is probably more extensive. In...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.