TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility-Reference-Cited by-同舟云学术

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

Published:2021-08-30 Issue:11 Volume:29 Page:1669-1676
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Engwerda Aafke^ORCID,Leenders Erika K. S. M.,Frentz Barbara,Terhal Paulien A.,Löhner Katharina,de Vries Bert B. A.,Dijkhuizen Trijnie,Vos Yvonne J.,Rinne Tuula^ORCID,van den Berg Maarten P.^ORCID,Roofthooft Marc T. R.,Deelen Patrick^ORCID,van Ravenswaaij-Arts Conny M. A.^ORCID,Kerstjens-Frederikse Wilhelmina S.^ORCID

Funder

Universitair Medisch Centrum Groningen

Recipient of a Junior Scientific Masterclass MD/PhD scholarship of the University Medical Center Groningen Crowdfunding organised by Chromosome 6 parents

ZonMw

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-021-00948-0.pdf

Reference31 articles.

1. Thienpont B, Zhang L, Postma AV, Breckpot J, Tranchevent L, Van Loo P, et al. Haploinsufficiency of TAB2 causes congenital heart defects in humans. Am J Hum Genet. 2010;86:839–49.

2. Cheng A, Dinulos MBP, Neufeld‐Kaiser W, Rosenfeld J, Kyriss M, Madan‐Khetarpal S, et al. 6q25.1 (TAB2) microdeletion syndrome: congenital heart defects and cardiomyopathy. Am J Med Genet Part A. 2017;173:1848–57. Jul.

3. Ritelli M, Morlino S, Giacopuzzi E, Bernardini L, Torres B, Santoro G, et al. A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. Clin Genet. 2018;93:126–33.

4. Chen P, Yin J, Yu H, Yuan T, Fernandez M, Yung CK, et al. Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci USA. 2014;111:11473–8. 8-5.