Listar Artículos por autor "Esteva, Isabel"
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Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease
Flueck, Christa E.; Audi, Laura; Fernández Cancio, Mónica; Sauter, Kay Sara; Martínez de la Piscina Martín, Idoia; Castaño González, Luis Antonio ; Esteva, Isabel; Camats, Nuria (Frontiers Media, 2019-08-29)Disorders/differences of sex development (DSD) are the result of a discordance between chromosomal, gonadal, and genital sex. DSD may be due to mutations in any of the genes involved in sex determination and development ... -
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 ...