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

HS Dhekne; O Pylypenko; AW Overeem; RJ Ferreira; KJ Van der Velde; Edmond Rings; C Posovszky; MA Swertz; A Houdusse; SCD van Ijzendoorn

doi:10.1002/humu.23386

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

HS Dhekne, O Pylypenko, AW Overeem, RJ Ferreira, KJ Van der Velde, Edmond Rings, C Posovszky, MA Swertz, A Houdusse, SCD van Ijzendoorn

Pediatrics

Research output: Contribution to journal › Article › Academic › peer-review

50 Citations (Scopus)

25 Downloads (Pure)

Original language	Undefined/Unknown
Pages (from-to)	333-344
Number of pages	12
Journal	Human Mutation
Volume	39
Issue number	3
DOIs	https://doi.org/10.1002/humu.23386
Publication status	Published - 2018

Research programs

EMC MM-04-54-07

Access to Document

10.1002/humu.23386

REPUB_104184-OA.pdfFinal published version, 751 KB

http://hdl.handle.net/1765/104184

Cite this

Dhekne, HS., Pylypenko, O., Overeem, AW., Ferreira, RJ., Van der Velde, KJ., Rings, E., Posovszky, C., Swertz, MA., Houdusse, A., & van Ijzendoorn, SCD. (2018). MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update. Human Mutation, 39(3), 333-344. https://doi.org/10.1002/humu.23386

@article{677023543af646e2874c384d6859afce,

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

author = "HS Dhekne and O Pylypenko and AW Overeem and RJ Ferreira and {Van der Velde}, KJ and Edmond Rings and C Posovszky and MA Swertz and A Houdusse and {van Ijzendoorn}, SCD",

year = "2018",

doi = "10.1002/humu.23386",

language = "Undefined/Unknown",

volume = "39",

pages = "333--344",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "Wiley-Liss Inc.",

number = "3",

}

Dhekne, HS, Pylypenko, O, Overeem, AW, Ferreira, RJ, Van der Velde, KJ, Rings, E, Posovszky, C, Swertz, MA, Houdusse, A & van Ijzendoorn, SCD 2018, 'MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update', Human Mutation, vol. 39, no. 3, pp. 333-344. https://doi.org/10.1002/humu.23386

TY - JOUR

T1 - MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update

AU - Dhekne, HS

AU - Pylypenko, O

AU - Overeem, AW

AU - Ferreira, RJ

AU - Van der Velde, KJ

AU - Rings, Edmond

AU - Posovszky, C

AU - Swertz, MA

AU - Houdusse, A

AU - van Ijzendoorn, SCD

PY - 2018

Y1 - 2018

U2 - 10.1002/humu.23386

DO - 10.1002/humu.23386

M3 - Article

C2 - 29266534

SN - 1059-7794

VL - 39

SP - 333

EP - 344

JO - Human Mutation

JF - Human Mutation

IS - 3

ER -