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Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities.
Giri, Dinesh; Vignola, Maria Lillina; Gualtieri, Angelica; Scagliotti, Valeria; McNamara, Paul; Peak, Matthew; Didi, Mohammed; Gaston-Massuet, Carles; Senniappan, Senthil.
Afiliação
  • Giri D; Department of Paediatric Endocrinology, Alder Hey Children's Hospital NHS Foundation Trust, Liverpool, UK.
  • Vignola ML; Department of Women and Children's Health, Institute in the Park, University of Liverpool, Liverpool L12 2AP, UK.
  • Gualtieri A; Centre for Endocrinology, William Harvey Research Institute, Barts & the London School of Medicine, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.
  • Scagliotti V; Centre for Endocrinology, William Harvey Research Institute, Barts & the London School of Medicine, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.
  • McNamara P; Centre for Endocrinology, William Harvey Research Institute, Barts & the London School of Medicine, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.
  • Peak M; Department of Women and Children's Health, Institute in the Park, University of Liverpool, Liverpool L12?2AP, UK.
  • Didi M; NIHR Alder Hey Clinical Research Facility for Experimental Medicine, Alder Hey Children's NHS Foundation Trust, Liverpool, L12 2AP, UK.
  • Gaston-Massuet C; Department of Paediatric Endocrinology, Alder Hey Children's Hospital NHS Foundation Trust, Liverpool, UK.
  • Senniappan S; Centre for Endocrinology, William Harvey Research Institute, Barts & the London School of Medicine, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.
Hum Mol Genet ; 26(22): 4315-4326, 2017 11 15.
Article em En | MEDLINE | ID: mdl-28973288
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Craniofaciais / Fator 3-beta Nuclear de Hepatócito / Hiperinsulinismo / Hipopituitarismo Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Craniofaciais / Fator 3-beta Nuclear de Hepatócito / Hiperinsulinismo / Hipopituitarismo Idioma: En Ano de publicação: 2017 Tipo de documento: Article