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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Bibliografiset tiedot
Julkaisussa:Int J Mol Sci
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI 2020
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7696449/
https://ncbi.nlm.nih.gov/pubmed/33202802
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21228554
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