A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability

Willem Verhoeven; JIM Egger; RE Jongbloed; MM van Putten; M de Bruijn-van Zandwijk; AS Zwemer; R Pfundt; MH Willemsen

doi:10.2147/imcrj.S270487

A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability

Willem Verhoeven
, JIM Egger
, RE Jongbloed
, MM van Putten
, M de Bruijn-van Zandwijk
, AS Zwemer
, R Pfundt
, MH Willemsen

Psychiatry

Research output: Contribution to journal › Article › Academic

15 Citations (Scopus)

44 Downloads (Pure)

Original language	English
Pages (from-to)	487-492
Number of pages	6
Journal	International Medical Case Reports Journal
Volume	13
DOIs	https://doi.org/10.2147/imcrj.S270487
Publication status	Published - 2020

Research programs

EMC ONWAR-01-58-02
EMC OR-01

Access to Document

10.2147/imcrj.S270487

Repub_131400_O-A.pdfFinal published version, 421 KB

http://hdl.handle.net/1765/131400

Cite this

@article{268043f960394ff399c0ee02e18023a8,

title = "A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability",

author = "Willem Verhoeven and JIM Egger and RE Jongbloed and \{van Putten\}, MM and \{de Bruijn-van Zandwijk\}, M and AS Zwemer and R Pfundt and MH Willemsen",

year = "2020",

doi = "10.2147/imcrj.S270487",

language = "English",

volume = "13",

pages = "487--492",

journal = "International Medical Case Reports Journal",

issn = "1179-142X",

publisher = "Dove Medical Press Ltd",

}

TY - JOUR

T1 - A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability

AU - Verhoeven, Willem

AU - Egger, JIM

AU - Jongbloed, RE

AU - van Putten, MM

AU - de Bruijn-van Zandwijk, M

AU - Zwemer, AS

AU - Pfundt, R

AU - Willemsen, MH

PY - 2020

Y1 - 2020

U2 - 10.2147/imcrj.S270487

DO - 10.2147/imcrj.S270487

M3 - Article

SN - 1179-142X

VL - 13

SP - 487

EP - 492

JO - International Medical Case Reports Journal

JF - International Medical Case Reports Journal

ER -