Published in Human Mutation by Van IJzendoorn group

MYO5B, STX3 and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.

Dhekne HS, Pylypenko O, Overeem AW, Ferreira RJ, van der Velde KJ, Rings EHHM, Posovszky C, Swertz MA, Houdusse A, van IJzendoorn SCD.

Hum Mutat. 2017 Dec 21. doi: 10.1002/humu.23386. [Epub ahead of print]

Pdf