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Haploinsufficiency of the DMRT Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development

BACKGROUND: Ovotesticular disorder is characterized by the presence of testicular and ovarian tissues in the same individual. Single gene mutations in SRY, SOX9, DMRT1 and DAX1 can lead to ovotesticular disorder of sexual development. CASE REPORT: Herein, we report a 3-month-old phenotypically femal...

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Detalles Bibliográficos
Autores principales: Eser, Metin, Ayaz, Akif
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5981126/
https://www.ncbi.nlm.nih.gov/pubmed/29219112
http://dx.doi.org/10.4274/balkanmedj.2017.0378