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

Summary: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by aplasia of the female reproductive tract; the syndrome can include renal anomalies, absence or dysgenesis, and skeletal anomalies. While functional models have elucidated several candidate genes, only WNT4 (MIM: 603490) vari...

書誌詳細
出版年:	HGG Advances
主要な著者:	Angad Jolly, Haowei Du, Christelle Borel, Na Chen, Sen Zhao, Christopher M. Grochowski, Ruizhi Duan, Jawid M. Fatih, Moez Dawood, Sejal Salvi, Shalini N. Jhangiani, Donna M. Muzny, André Koch, Konstantinos Rouskas, Stavros Glentis, Efthymios Deligeoroglou, Flora Bacopoulou, Carol A. Wise, Jennifer E. Dietrich, Ignatia B. Van den Veyver, Antigone S. Dimas, Sara Brucker, V. Reid Sutton, Richard A. Gibbs, Stylianos E. Antonarakis, Nan Wu, Zeynep H. Coban-Akdemir, Lan Zhu, Jennifer E. Posey, James R. Lupski
フォーマット:	論文
言語:	英語
出版事項:	Elsevier 2023-07-01
主題:	rare variant gene enrichment exonic deletion CNV Alu-Alu mediated rearrangement developmental genomics genitourinary development infertility
オンライン･アクセス:	http://www.sciencedirect.com/science/article/pii/S2666247723000209

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