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A novel SRY pathogenic variant from a 46,XY female harboring a nonsense point mutation (G to A) in position 293
46,XY female is a genetic disorder characterized by gonad gender not consistent with chromosomal sex. The SRY gene mutation is a common cause of 46,XY reversal type 1 (OMIM: 400044). Peripheral blood was collected from a 46,XY female patient and her father. Sex chromosomes were confirmed by karyotyp...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8385684/ https://www.ncbi.nlm.nih.gov/pubmed/34466259 http://dx.doi.org/10.1002/ccr3.4706 |