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FDXR variants cause adrenal insufficiency and atypical sexual development.
Pignatti, Emanuele; Slone, Jesse; Gómez Cano, María Ángeles; Campbell, Teresa Margaret; Vu, Jimmy; Sauter, Kay-Sara; Pandey, Amit V; Martínez-Azorín, Francisco; Alonso-Riaño, Marina; Neilson, Derek E; Longo, Nicola; du Toit, Therina; Voegel, Clarissa D; Huang, Taosheng; Flück, Christa E.
Affiliation
  • Pignatti E; Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, and.
  • Slone J; Department of Biomedical Research, University of Bern, Bern, Switzerland.
  • Gómez Cano MÁ; Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, New York, USA.
  • Campbell TM; Department of Pediatrics, Endocrinology Unit, and.
  • Vu J; Unidad de Dismorfología y Genética (UDISGEN), 12 de Octubre University Hospital, Madrid, Spain.
  • Sauter KS; Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, New York, USA.
  • Pandey AV; Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, New York, USA.
  • Martínez-Azorín F; Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, and.
  • Alonso-Riaño M; Department of Biomedical Research, University of Bern, Bern, Switzerland.
  • Neilson DE; Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, and.
  • Longo N; Department of Biomedical Research, University of Bern, Bern, Switzerland.
  • du Toit T; Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigación Hospital 12 de Octubre (imas12), E-28041 Madrid, Spain.
  • Voegel CD; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, E-28041 Madrid, Spain.
  • Huang T; Pathology Department, 12 de Octubre University Hospital, Madrid, Spain.
  • Flück CE; Division of Genetics and Metabolism, Department of Child Health, The University of Arizona College of Medicine, Phoenix, Arizona, USA.
JCI Insight ; 9(14)2024 Jun 17.
Article in En | MEDLINE | ID: mdl-38885337
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Adrenal Insufficiency / Ferredoxin-NADP Reductase Limits: Animals / Female / Humans / Infant / Male Language: En Journal: JCI Insight Year: 2024 Document type: Article Country of publication: Estados Unidos
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Adrenal Insufficiency / Ferredoxin-NADP Reductase Limits: Animals / Female / Humans / Infant / Male Language: En Journal: JCI Insight Year: 2024 Document type: Article Country of publication: Estados Unidos