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A case report of 46,XY partial gonadal dysgenesis caused by a novel mutation in the sex-determining region gene
The sex-determining region Y (SRY) gene is a key gene involved in male sex differentiation and development. Patients with 46,XY disorders of sex development related to mutations in the high mobility group (HMG) box typically present with complete gonadal dysgenesis. In this study, we report a case o...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
AME Publishing Company
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7804473/ https://www.ncbi.nlm.nih.gov/pubmed/33457310 http://dx.doi.org/10.21037/tp-20-414 |