Browsing Artículos by Author "Costa, Ines"
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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
Martínez de la Piscina Martín, Idoia; Mahmoud, Rana A. A.; Sauter, Kay Sara; Esteva, Isabel; Alonso, Milagros; Costa, Ines; Rial Rodíguez, Jóse Manuel; Rodríguez Estévez, Amaia; Vela Desojo, Amaia; Castaño González, Luis Antonio ; Flück, Christa E. (MDPI, 2020-11-13)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 ...