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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...
Autores principales: | Tsai, Meng-Che, Weng, Yun-Han, Lin, Yu-Fang, Wang, Yi-Chieh, Yu, Hui-Wen, Chou, Yen-Yin, Chen, Peng-Chieh |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
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 |
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