Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndrome

Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndrome

Abstract Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, also known as Müllerian agenesis, is characterized by uterovaginal aplasia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Previous studies have associated sequence variants of PAX8, TBX6, GEN1, WNT4, WNT9B, BMP4, B...

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Bibliographic Details
Main Authors: Chunfang Chu, Lin Li, Shenghui Li, Qi Zhou, Ping Zheng, Yu-Di Zhang, Ai-hong Duan, Dan Lu, Yu-Mei Wu
Format: Article
Language:English
Published: BMC 2022-03-01
Series:Human Genomics
Subjects:
Mayer–Rokitansky–Küster–Hauser syndrome
Whole-exome sequencing
Variant
TBC1D1
Online Access:https://doi.org/10.1186/s40246-022-00385-0

Internet

https://doi.org/10.1186/s40246-022-00385-0

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