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Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant.
Catli, Gonul; Gao, Wen; Foley, Corinne; Özyilmaz, Berk; Edeer, Neslihan; Diniz, Gulden; Losekoot, Monique; van Doorn, Jaap; Dauber, Andrew; Dundar, Bumin N; Wit, Jan M; Hwa, Vivian.
Afiliação
  • Catli G; Division of Paediatric Endocrinology, Department of Paediatrics, Istinye University Faculty of Medicine, Istanbul, Turkey. Electronic address: gonulcatli@gmail.com.
  • Gao W; Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA. Electronic address: lydiawengao@gmail.com.
  • Foley C; Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA; Medical Scientist Training Program, University of Cincinnati College of Medicine, Cincinnati, OH, USA. Electronic address: foleyco@ma
  • Özyilmaz B; Department of Clinical Genetics, Tepecik Training and Research Hospital, Izmir, Turkey. Electronic address: drberk@gmail.com.
  • Edeer N; Department of Paediatric Immunology, Ege University Faculty of Medicine, Izmir, Turkey. Electronic address: neslihanedeer@gmail.com.
  • Diniz G; Department of Pathology, Izmir Democracy University Medical School, Izmir, Turkey. Electronic address: agdiniz@gmail.com.
  • Losekoot M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands. Electronic address: m.losekoot@lumc.nl.
  • van Doorn J; Department of Genetics, Section Metabolic Diagnostics, University Medical Centre Utrecht, Utrecht, the Netherlands. Electronic address: j.van.doorn@quicknet.nl.
  • Dauber A; Division of Endocrinology, Children's National Hospital, Department of Pediatrics, George Washington School of Medicine and Health Sciences, Washington, DC, USA. Electronic address: adauber@childrensnational.org.
  • Dundar BN; Division of Paediatric Endocrinology, Department of Paediatrics, Izmir Katip Celebi University Faculty of Medicine, Izmir, Turkey. Electronic address: bumindundar@gmail.com.
  • Wit JM; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, the Netherlands. Electronic address: j.m.wit@lumc.nl.
  • Hwa V; Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA. Electronic address: Vivian.Hwa@cchmc.org.
Mol Cell Endocrinol ; 559: 111799, 2023 01 01.
Article em En | MEDLINE | ID: mdl-36265659
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Nanismo / Síndromes de Imunodeficiência Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Nanismo / Síndromes de Imunodeficiência Idioma: En Ano de publicação: 2023 Tipo de documento: Article