Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays-Reference-Cited by-同舟云学术

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

Published:2023-07-27 Issue:10 Volume:31 Page:1117-1124
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Ganapathi Mythily^ORCID,Matsuoka Leticia S.,March Michael,Li Dong^ORCID,Brokamp Elly,Benito-Sanz Sara,White Susan M.^ORCID,Lachlan Katherine,Ahimaz Priyanka^ORCID,Sewda Anshuman,Bastarache Lisa,Thomas-Wilson Amanda,Stoler Joan M.,Bramswig Nuria C.^ORCID,Baptista Julia^ORCID,Stals Karen^ORCID,Demurger Florence,Cogne Benjamin^ORCID,Isidor Bertrand,Bedeschi Maria Francesca,Peron Angela^ORCID,Amiel Jeanne,Zackai Elaine^ORCID,Schacht John P.,Iglesias Alejandro D.,Morton Jenny,Schmetz Ariane^ORCID,Cogan Joy D.,Seidel Verónica,Lucia Stephanie,Baskin Stephanie M.,Thiffault Isabelle,Cogan Joy D.,Gordon Christopher T.^ORCID,Chung Wendy K.,Bowdin Sarah,Bhoj Elizabeth^ORCID,

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-023-01434-5.pdf

Reference38 articles.

1. Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, et al. Rare variants in NR2F2 cause congenital heart defects in humans. Am J Hum Genet. 2014;94:574–85.

2. Polvani S, Pepe S, Milani S, Galli A. COUP-TFII in health and disease. Cells. 2019;9:101.

3. Lin FJ, Qin J, Tang K, Tsai SY, Tsai MJ. Coup d'Etat: an orphan takes control. Endocr Rev. 2011;32:404–21.

4. Pereira FA, Qiu Y, Zhou G, Tsai MJ, Tsai SY. The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development. Genes Dev. 1999;13:1037–49.

5. Zhao F, Franco HL, Rodriguez KF, Brown PR, Tsai MJ, Tsai SY, et al. Elimination of the male reproductive tract in the female embryo is promoted by COUP-TFII in mice. Science. 2017;357:717–20.

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