Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature

Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature

The myelin regulatory factor (MYRF; MIM# 608329) gene was first identified as a critical transcription factor involved in oligodendrocyte differentiation and central nervous system myelination. With the recent development of exome sequencing, pathogenic variants of MYRF had been considered as the ca...

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Bibliographic Details
Main Authors: Hui Wang, Dian Wu, De-Hua Wu, Hong-Juan Tian, Hai-Feng Li, Ke-Wen Jiang, Chao-Chun Zou
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Pediatrics
Subjects:
MYRF gene
cardiac-urogenital syndrome
disorders/differences of sex development
nanophthalmos
short stature
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.1027832/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.1027832/full

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