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Article

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

International journal of molecular sciences - 13 Nov 2020

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

Abstract excerpt

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-associated genes that modify sex determination, differentiation and organ function in patients with heterozygous NR5A1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33202802
DOI: 10.3390/ijms21228554
PMCID: PMC7696449

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Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1.PMID 33202802Read ↗

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