Rare Variant Enrichment analysis Supports

Authors

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

Publication Date

7-13-2023

Journal

Human Genetics and Genomics Advances

Abstract

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

Keywords

Female, Humans, 46, XX Disorders of Sex Development, Urogenital Abnormalities, Uterus