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

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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

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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

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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",

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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

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VL - 39

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EP - 344

JO - Human Mutation

JF - Human Mutation

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