Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development

Ovotesticular differences of sexual development (OT‐DSD) are rare genetic variances defined by the coexistence of both testicular and ovarian tissues. Various molecular etiologies including SRY translocation or SOX9 pathogenic variants with different modes of inheritance have been associated with 46...

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Detalles Bibliográficos
Autores principales: Qian, Zhiyu, Grand, Katheryn, Freedman, Andrew, Nieto, Maria C., Behlmann, Andrea, Schweiger, Bahareh M., Sanchez‐Lara, Pedro A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8453973/
https://www.ncbi.nlm.nih.gov/pubmed/34050715
http://dx.doi.org/10.1002/ajmg.a.62373

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8453973/
https://www.ncbi.nlm.nih.gov/pubmed/34050715
http://dx.doi.org/10.1002/ajmg.a.62373

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