Browsing Artículos by Author "Vela Desojo, Amaia"
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Pseudohypoparathyroidism Type Ib Associated with Novel Duplications in the GNAS Locus
Pérez de Nanclares, Gustavo; Velayos Gainza, Teresa; Vela Desojo, Amaia; Muñoz-Torres, Manuel; Castaño González, Luis Antonio (Public Library Science, 2015-02-24)Context Pseudohypoparathyroidism type 1b (PHP-Ib) is characterized by renal resistance to PTH (and, sometimes, a mild resistance to TSH) and absence of any features of Albright's hereditary osteodystrophy. Patients with ... -
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 ...