Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome-Reference-Cited by-同舟云学术

Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome

Published:2023-07 Issue:3 Volume:4 Page:100188
ISSN:2666-2477
Container-title:Human Genetics and Genomics Advances
language:en
Short-container-title:Human Genetics and Genomics Advances

Author:

Jolly Angad,Du Haowei,Borel Christelle,Chen Na,Zhao Sen,Grochowski Christopher M.,Duan Ruizhi,Fatih Jawid M.,Dawood Moez,Salvi Sejal,Jhangiani Shalini N.,Muzny Donna M.,Koch André,Rouskas Konstantinos,Glentis Stavros,Deligeoroglou Efthymios,Bacopoulou Flora,Wise Carol A.,Dietrich Jennifer E.,Van den Veyver Ignatia B.,Dimas Antigone S.,Brucker Sara,Sutton V. Reid,Gibbs Richard A.,Antonarakis Stylianos E.,Wu Nan,Coban-Akdemir Zeynep H.,Zhu Lan,Posey Jennifer E.,Lupski James R.^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Molecular Medicine

Reference71 articles.

1. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update;Herlin;Orphanet J. Rare Dis.,2020

2. Griffin, J.E., Edwards, C., Madden, J.D., Harrod, M.J., and Wilson, J.D. (1976). Congenital absence of the vagina. The Mayer-Rokitansky-Kuster-Hauser syndrome. Ann. Intern. Med. 85, 224–236. https://doi.org/10.7326/0003-4819-85-2-224.

3. Prevalence and patient characteristics of Mayer-Rokitansky-Küster-Hauser syndrome: a nationwide registry-based study;Herlin;Hum. Reprod.,2016

4. Recherches sur les Aplasies Mulleriennes;Morcel;Orphanet J. Rare Dis.,2007

5. Malformations in a cohort of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH);Oppelt;Reprod. Biol. Endocrinol.,2012

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1. A novel de novo synonymous variant in GREB1L impacts the mRNA splicing associated with aplasia of the urogenital system;American Journal of Medical Genetics Part A;2024-08-02

2. Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications;Frontiers in Endocrinology;2024-04-18

3. The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease;Prenatal Diagnosis;2024-01-29