Article
MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.
Human mutation - 1 Mar 2018
Dhekne Herschel S, Pylypenko Olena, Overeem Arend W, Zibouche Malik, Ferreira Rosaria J, van der Velde K Joeri, Rings Edmond H H M, Posovszky Carsten, van der Sluijs Peter, Swertz Morris A, Houdusse Anne, van IJzendoorn Sven C D
Abstract excerpt
Microvillus inclusion disease (MVID) is a rare but fatal autosomal recessive congenital diarrheal disorder caused by MYO5B mutations. In 2013, we launched an open-access registry for MVID patients and their MYO5B mutations (www.mvid-central.org). Since then, additional unique MYO5B mutations have been identified in MVID patients, but also in non-MVID patients. Animal models have been generated that formally prove...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.