Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy

R Almomani; JC Herkert; A Posafalvi; JG Post; LG Boven; PA van der Zwaag; P Willems; IH Van Veen-Hof; Judith Verhagen; Marja Wessels; PGJ Nikkels; LT Wintjes; MMP (Mike) van den Berg; RJ Sinke; RJ Rodenburg; KE Niezen-Koning; JP Tintelen; JD Jongbloed

doi:10.1136/jmedgenet-2019-106330

Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy

R Almomani
, JC Herkert
, A Posafalvi
, JG Post
, LG Boven
, PA van der Zwaag
, P Willems
, IH Van Veen-Hof
, Judith Verhagen
, Marja Wessels
, PGJ Nikkels
, LT Wintjes
, MMP (Mike) van den Berg
, RJ Sinke
, RJ Rodenburg
, KE Niezen-Koning
, JP Tintelen
, JD Jongbloed

Clinical Genetics

External organisation

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

26 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	23-30
Number of pages	8
Journal	Journal of Medical Genetics
Volume	57
Issue number	1
DOIs	https://doi.org/10.1136/jmedgenet-2019-106330
Publication status	Published - Jan 2020

Research programs

EMC OR-01

Access to Document

10.1136/jmedgenet-2019-106330

Cite this

Almomani, R., Herkert, JC., Posafalvi, A., Post, JG., Boven, LG., van der Zwaag, PA., Willems, P., Van Veen-Hof, IH., Verhagen, J., Wessels, M., Nikkels, PGJ., Wintjes, LT., van den Berg, MMP., Sinke, RJ., Rodenburg, RJ., Niezen-Koning, KE., Tintelen, JP., & Jongbloed, JD. (2020). Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy. Journal of Medical Genetics, 57(1), 23-30. https://doi.org/10.1136/jmedgenet-2019-106330

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doi = "10.1136/jmedgenet-2019-106330",

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Almomani, R, Herkert, JC, Posafalvi, A, Post, JG, Boven, LG, van der Zwaag, PA, Willems, P, Van Veen-Hof, IH, Verhagen, J, Wessels, M, Nikkels, PGJ, Wintjes, LT, van den Berg, MMP, Sinke, RJ, Rodenburg, RJ, Niezen-Koning, KE, Tintelen, JP & Jongbloed, JD 2020, 'Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy', Journal of Medical Genetics, vol. 57, no. 1, pp. 23-30. https://doi.org/10.1136/jmedgenet-2019-106330

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T1 - Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy

AU - Almomani, R

AU - Herkert, JC

AU - Posafalvi, A

AU - Post, JG

AU - Boven, LG

AU - van der Zwaag, PA

AU - Willems, P

AU - Van Veen-Hof, IH

AU - Verhagen, Judith

AU - Wessels, Marja

AU - Nikkels, PGJ

AU - Wintjes, LT

AU - van den Berg, MMP (Mike)

AU - Sinke, RJ

AU - Rodenburg, RJ

AU - Niezen-Koning, KE

AU - Tintelen, JP

AU - Jongbloed, JD

PY - 2020/1

Y1 - 2020/1

U2 - 10.1136/jmedgenet-2019-106330

DO - 10.1136/jmedgenet-2019-106330

M3 - Article

C2 - 31494578

SN - 0022-2593

VL - 57

SP - 23

EP - 30

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 1

ER -