Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients

Disorders/differences of sex development (DSDs) are a group of rare and phenotypically variable diseases. The underlying genetic causes of most cases of 46XY DSDs remains unknown. Despite the advent of genetic testing, current investigations of the causes of DSDs allow genetic-mechanism identificati...

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Detalles Bibliográficos
Autores principales: Tsai, Meng-Che, Weng, Yun-Han, Lin, Yu-Fang, Wang, Yi-Chieh, Yu, Hui-Wen, Chou, Yen-Yin, Chen, Peng-Chieh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9953256/
https://www.ncbi.nlm.nih.gov/pubmed/36830778
http://dx.doi.org/10.3390/biomedicines11020242

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9953256/
https://www.ncbi.nlm.nih.gov/pubmed/36830778
http://dx.doi.org/10.3390/biomedicines11020242

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