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Unique near-complete deletion of GLI2 in a patient with combined pituitary hormone deficiency and post-axial polydactyly.
Elizabeth, Melitza S M; Verkerk, Annemieke J M H; Hokken-Koelega, Anita C S; Verlouw, Joost A M; Argente, Jesús; Pfaeffle, Roland; Visser, Theo J; Peeters, Robin P; De Graaff, Laura C G.
Afiliação
  • Elizabeth MSM; Dutch Growth Research Foundation, Rotterdam, the Netherlands. Electronic address: m.elizabeth@erasmusmc.nl.
  • Verkerk AJMH; Erasmus MC Rotterdam, Dept of Internal Medicine, Genetic laboratory, the Netherlands.
  • Hokken-Koelega ACS; Erasmus MC Rotterdam, Academic Center for Rare Growth Disorders, the Netherlands; Erasmus MC Rotterdam, Dept of Pediatrics, Subdiv. Endocrinology, the Netherlands.
  • Verlouw JAM; Erasmus MC Rotterdam, Dept of Internal Medicine, Genetic laboratory, the Netherlands.
  • Argente J; Hospital Infantil Universitario Niño Jesús, Department of Endocrinology, Instituto de Investigación La Princesa, Universidad Autónoma de Madrid, Department of Pediatrics, Madrid, Spain; CIBER de Fisiopatologia de la Obesidad y Nutriciόn (CIBEROBN), Instituto de Salud Carlos III, IMDEA Food Institut
  • Pfaeffle R; Hospital for Children and Adolescents, University of Leipzig, Pediatrics, Germany.
  • Visser TJ; Erasmus MC Rotterdam, Academic Center for Thyroid Diseases, the Netherlands.
  • Peeters RP; Erasmus MC Rotterdam, Department of Internal Medicine, Subdiv. Endocrinology, the Netherlands; Erasmus MC Rotterdam, Academic Center for Thyroid Diseases, the Netherlands.
  • De Graaff LCG; Erasmus MC Rotterdam, Department of Internal Medicine, Subdiv. Endocrinology, the Netherlands; Erasmus MC Rotterdam, Academic Center for Rare Growth Disorders, the Netherlands.
Growth Horm IGF Res ; 50: 35-41, 2020 02.
Article em En | MEDLINE | ID: mdl-31862539
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Dedos do Pé / Deleção de Genes / Polidactilia / Dedos / Proteína Gli2 com Dedos de Zinco / Hipopituitarismo 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: Proteínas Nucleares / Dedos do Pé / Deleção de Genes / Polidactilia / Dedos / Proteína Gli2 com Dedos de Zinco / Hipopituitarismo Idioma: En Ano de publicação: 2020 Tipo de documento: Article