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Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report.
Iughetti, Lorenzo; Lucaccioni, Laura; Bruzzi, Patrizia; Ciancia, Silvia; Bigi, Elena; Madeo, Simona Filomena; Predieri, Barbara; Roucher-Boulez, Florence.
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  • Iughetti L; Pediatric Unit, Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Via del Pozzo n. 71, 41124, Modena, Italy. lorenzo.iughetti@unimore.it.
  • Lucaccioni L; Pediatric Unit, Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Via del Pozzo n. 71, 41124, Modena, Italy.
  • Bruzzi P; Pediatric Unit, Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Via del Pozzo n. 71, 41124, Modena, Italy.
  • Ciancia S; Pediatric Unit, Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Via del Pozzo n. 71, 41124, Modena, Italy.
  • Bigi E; Pediatric Unit, Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Via del Pozzo n. 71, 41124, Modena, Italy.
  • Madeo SF; Pediatric Unit, Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Via del Pozzo n. 71, 41124, Modena, Italy.
  • Predieri B; Pediatric Unit, Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Via del Pozzo n. 71, 41124, Modena, Italy.
  • Roucher-Boulez F; Laboratoire de Biochimie et Biologie Moléculaire Grand Est, UM Pathologies Endocriniennes Rénales Musculaires et Mucoviscidose, Groupement Hospitalier Est, Hospices Civils de Lyon, Univ Lyon, Université Claude Bernard Lyon 1, Lyon, France.
BMC Med Genet ; 20(1): 98, 2019 06 04.
Article en En | MEDLINE | ID: mdl-31164167
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Hipoaldosteronismo / Receptor Nuclear Huérfano DAX-1 / Insuficiencia Corticosuprarrenal Familiar / Mutación Tipo de estudio: Etiology_studies Límite: Humans / Male / Newborn Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Italia
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Hipoaldosteronismo / Receptor Nuclear Huérfano DAX-1 / Insuficiencia Corticosuprarrenal Familiar / Mutación Tipo de estudio: Etiology_studies Límite: Humans / Male / Newborn Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Italia