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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Int J Mol Sci
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: MDPI 2020
Onderwerpen:
Article
Online toegang: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
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items