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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Detalles Bibliográficos
Autores principales: Wang, Hui, Wu, Dian, Wu, De-Hua, Tian, Hong-Juan, Li, Hai-Feng, Jiang, Ke-Wen, Zou, Chao-Chun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9715973/
https://www.ncbi.nlm.nih.gov/pubmed/36467480
http://dx.doi.org/10.3389/fped.2022.1027832

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9715973/
https://www.ncbi.nlm.nih.gov/pubmed/36467480
http://dx.doi.org/10.3389/fped.2022.1027832

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