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Martinez de LaPiscina, Idoia; Kouri, Chrysanthi; Aurrekoetxea, Josu; Sanchez, Mirian; Naamneh Elzenaty, Rawda; Sauter, Kay-Sara; Camats, Núria; Grau, Gema; Rica, Itxaso; Rodriguez, Amaia; Vela, Amaia; Cortazar, Alicia; Alonso-Cerezo, Maria Concepción; Bahillo, Pilar; Bertholt, Laura; Esteva, Isabel; Castaño, Luis; Flück, Christa E (2023). Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations. PLoS ONE, 18(7), e0287515. Public Library of Science 10.1371/journal.pone.0287515
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. (2020). 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, 21(22) MDPI 10.3390/ijms21228554
Flück, Christa E.; Audí, Laura; Fernández-Cancio, Mónica; Sauter, Kay-Sara; Martinez de LaPiscina, Idoia; Castaño, Luis; Esteva, Isabel; Camats, Núria (2019). Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease. Frontiers in genetics, 10(746), p. 746. Frontiers Media SA 10.3389/fgene.2019.00746
