Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome-Reference-Cited by-同舟云学术

Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome

Published:2022-11 Issue:11 Volume:24 Page:2262-2273
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Ma Congcong,Chen Na,Jolly Angad,Zhao Sen,Coban-Akdemir Zeynep,Tian Weijie,Kang Jia,Ye Yang,Wang Yuan,Koch André,Zhang Yuanqiang,Qin Chenglu,Bonilla Ximena,Borel Christelle,Rall Katharina,Chen Zefu,Jhangiani Shalini,Niu Yuchen,Li Xiaoxin,Qiu Guixing,Zhang Shuyang,Luo Guangnan,Wu Zhihong,Bacopoulou Flora,Deligeoroglou Efthymios,Zhang Terry Jianguo,Rosenberg Carla,Gibbs Richard A.,Dietrich Jennifer E.,Dimas Antigone S.,Liu Pengfei,Antonarakis Stylianos E.,Brucker Sara Y.,Posey Jennifer E.,Lupski James R.,Wu Nan,Zhu Lan^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical)

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4. Spectrum of type I and type II syndromes and associated malformations in Chinese patients with Mayer-Rokitansky-Küster-Hauser syndrome: a retrospective analysis of 274 cases;Deng;J Pediatr Adolesc Gynecol,2019

5. Dysmorphologic assessment in 115 Mayer-Rokitansky-Küster-Hauser patients;Lalatta;Clin Dysmorphol,2015

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

2. Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility—A Systematic Review;International Journal of Molecular Sciences;2023-12-21

3. Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome;Human Genetics and Genomics Advances;2023-07