Article
Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome.
Developmental biology - 15 Jul 2016
Devotta Arun, Juraver-Geslin Hugo, Gonzalez Jose Antonio, Hong Chang-Soo, Saint-Jeannet Jean-Pierre
Abstract excerpt
Mandibulofacial dysostosis (MFD) is a human developmental disorder characterized by defects of the facial bones. It is the second most frequent craniofacial malformation after cleft lip and palate. Nager syndrome combines many features of MFD with a variety of limb defects. Mutations in SF3B4 (splicing factor 3b, subunit 4) gene, which encodes a component of the pre-mRNA spliceosomal complex, were recently...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
