Your browser doesn't support javascript.
loading
Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia.
Katharopoulos, Efstathios; Di Iorgi, Natascia; Fernandez-Alvarez, Paula; Pandey, Amit V; Groessl, Michael; Dubey, Shraddha; Camats, Núria; Napoli, Flavia; Patti, Giuseppa; Lezzi, Marilea; Maghnie, Mohamad; Flück, Christa E.
Afiliação
  • Katharopoulos E; Department of Paediatrics, Division of Endocrinology, Diabetology & Metabolism, Bern University Hospital, 3010 Bern, Switzerland.
  • Di Iorgi N; Department of Biomedical Research, Bern University Hospital and University of Bern, 3010 Bern, Switzerland.
  • Fernandez-Alvarez P; Graduate School Bern, University of Bern, 3012 Bern, Switzerland.
  • Pandey AV; Department of Paediatrics, Istituto Giannina Gaslini, University of Genoa, 16147 Genoa, Italy.
  • Groessl M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, 16147 Genoa, Italy.
  • Dubey S; Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d'Hebron, 08035 Barcelona, Spain.
  • Camats N; Department of Paediatrics, Division of Endocrinology, Diabetology & Metabolism, Bern University Hospital, 3010 Bern, Switzerland.
  • Napoli F; Department of Biomedical Research, Bern University Hospital and University of Bern, 3010 Bern, Switzerland.
  • Patti G; Department of Biomedical Research, Bern University Hospital and University of Bern, 3010 Bern, Switzerland.
  • Lezzi M; Department of Nephrology and Hypertension, Bern University Hospital, 3010 Bern, Switzerland.
  • Maghnie M; Department of Paediatrics, Division of Endocrinology, Diabetology & Metabolism, Bern University Hospital, 3010 Bern, Switzerland.
  • Flück CE; Department of Biomedical Research, Bern University Hospital and University of Bern, 3010 Bern, Switzerland.
Int J Mol Sci ; 21(17)2020 08 27.
Article em En | MEDLINE | ID: mdl-32867102
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosfoproteínas / Hiperplasia Suprarrenal Congênita / Mutação de Sentido Incorreto / Transtorno 46,XY do Desenvolvimento Sexual Tipo de estudo: Guideline / Prognostic_studies Limite: Animals / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosfoproteínas / Hiperplasia Suprarrenal Congênita / Mutação de Sentido Incorreto / Transtorno 46,XY do Desenvolvimento Sexual Tipo de estudo: Guideline / Prognostic_studies Limite: Animals / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article