Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1

Variants of NR5A1 are often found in individuals with 46,XY disorders of sex development (DSD) and manifest with a very broad spectrum of clinical characteristics and variable sex hormone levels. Such complex phenotypic expression can be due to the inheritance of additional genetic hits in DSD-assoc...

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Detalles Bibliográficos
Autores principales: Martínez de LaPiscina, Idoia, Mahmoud, Rana AA, Sauter, Kay-Sara, Esteva, Isabel, Alonso, Milagros, Costa, Ines, Rial-Rodriguez, Jose Manuel, Rodríguez-Estévez, Amaia, Vela, Amaia, Castano, Luis, Flück, Christa E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7696449/
https://www.ncbi.nlm.nih.gov/pubmed/33202802
http://dx.doi.org/10.3390/ijms21228554

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7696449/
https://www.ncbi.nlm.nih.gov/pubmed/33202802
http://dx.doi.org/10.3390/ijms21228554

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