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A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male

Deficiency of the 5‐alpha‐reductase may have an important role in 46,XY DSD in some cohorts. The prenatal ultrasonography and karyotyping can trigger the attention toward the presence of a DSD in fetus.

Detalles Bibliográficos
Autores principales: Dalili, Setilla, Rabbani, Bahareh, Hassanzadeh Rad, Afagh, Koohmanaee, Shaahin, Mahdieh, Nejat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7562857/
https://www.ncbi.nlm.nih.gov/pubmed/33088526
http://dx.doi.org/10.1002/ccr3.3028