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

Herschel Dhekne , Olena Pylypenko (1) , Arend Overeem , Rosaria Ferreira , K. Joeri van Der Velde , Edmond H.H.M. Rings , Carsten Posovszky , Morris Swertz (2) , Anne Houdusse (3) , Sven C.D. van Ijzendoorn

1 Motilité structurale
2 Department of Genetics
3 CDC - Compartimentation et dynamique cellulaires

Domaines: Organisation et fonctions cellulaires [q-bio.SC]; Anatomie, Histologie, Anatomopathologie [q-bio.TO]

Herschel Dhekne, Olena Pylypenko, Arend Overeem, Rosaria Ferreira, K. Joeri van Der Velde, et al.. MYO5B , STX3 , and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update. Human Mutation, 2018, 39 (3), pp.333-344. ⟨10.1002/humu.23386⟩. ⟨hal-02349537⟩