LUIS ANTONIO
CASTAÑO GONZÁLEZ
Hospital Vall d'Hebron
Barcelona, EspañaPublicaciones en colaboración con investigadores/as de Hospital Vall d'Hebron (8)
2024
2015
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RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than Cys634Tyr mutation
European Journal of Endocrinology, Vol. 172, Núm. 3, pp. 301-307
2013
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Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm
PLoS ONE, Vol. 8, Núm. 9
2012
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Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals
Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 7
2010
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Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development
Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 4, pp. 1876-1888
2009
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ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation
European Journal of Pediatrics, Vol. 168, Núm. 1, pp. 65-69
2006
1998
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A novel missense (R80W) mutation in 17-β-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism
European Journal of Endocrinology, Vol. 139, Núm. 3, pp. 330-333