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BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.
Bosch, Elisabeth; Hebebrand, Moritz; Popp, Bernt; Penger, Theresa; Behring, Bettina; Cox, Helen; Towner, Shelley; Kraus, Cornelia; Wilson, William G; Khan, Shagufta; Krumbiegel, Mandy; Ekici, Arif B; Uebe, Steffen; Trollmann, Regina; Woelfle, Joachim; Reis, André; Vasileiou, Georgia.
Afiliação
  • Bosch E; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.
  • Hebebrand M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.
  • Popp B; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 04103 Leipzig, Germany.
  • Penger T; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, 91054 Erlangen, Germany.
  • Behring B; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, 91054 Erlangen, Germany.
  • Cox H; West Midlands Regional Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, Birmingham B15 2TG, UK.
  • Towner S; Department of Pediatrics, Division of Genetics, University of Virginia, Charlottesville, Virginia 22908, USA.
  • Kraus C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.
  • Wilson WG; Department of Pediatrics, Division of Genetics, University of Virginia, Charlottesville, Virginia 22908, USA.
  • Khan S; West Midlands Regional Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, Birmingham B15 2TG, UK.
  • Krumbiegel M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.
  • Ekici AB; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.
  • Uebe S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.
  • Trollmann R; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, 91054 Erlangen, Germany.
  • Woelfle J; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, 91054 Erlangen, Germany.
  • Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.
  • Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.
J Clin Endocrinol Metab ; 106(12): 3413-3427, 2021 11 19.
Article em En | MEDLINE | ID: mdl-34383079
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Prader-Willi / Carboxipeptidase H / Transtornos do Neurodesenvolvimento / Mutação com Perda de Função / Hipogonadismo / Hipotireoidismo / Obesidade Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Prader-Willi / Carboxipeptidase H / Transtornos do Neurodesenvolvimento / Mutação com Perda de Função / Hipogonadismo / Hipotireoidismo / Obesidade Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article