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Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.
Gregory, Louise C; Shah, Pratik; Sanner, Juliane R F; Arancibia, Monica; Hurst, Jane; Jones, Wendy D; Spoudeas, Helen; Le Quesne Stabej, Polona; Williams, Hywel J; Ocaka, Louise A; Loureiro, Carolina; Martinez-Aguayo, Alejandro; Dattani, Mehul T.
Affiliation
  • Gregory LC; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Shah P; Great Ormond Street Hospital, London, United Kingdom.
  • Sanner JRF; Great Ormond Street Hospital, London, United Kingdom.
  • Arancibia M; Division de Pediatria, Escuela de Medicina, Pontificia Universidad Catolica de Chile, Santiago, Chile.
  • Hurst J; NE Thames Genetics Service, Great Ormond Street Hospital, London, United Kingdom.
  • Jones WD; NE Thames Genetics Service, Great Ormond Street Hospital, London, United Kingdom.
  • Spoudeas H; Great Ormond Street Hospital, London, United Kingdom.
  • Le Quesne Stabej P; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Williams HJ; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Ocaka LA; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Loureiro C; Division de Pediatria, Escuela de Medicina, Pontificia Universidad Catolica de Chile, Santiago, Chile.
  • Martinez-Aguayo A; Division de Pediatria, Escuela de Medicina, Pontificia Universidad Catolica de Chile, Santiago, Chile.
  • Dattani MT; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
J Clin Endocrinol Metab ; 104(12): 5737-5750, 2019 12 01.
Article in En | MEDLINE | ID: mdl-31504653
Subject(s)
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Proteins / Genetic Diseases, X-Linked / Neural Cell Adhesion Molecule L1 / Hypopituitarism Type of study: Prognostic_studies / Risk_factors_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: J Clin Endocrinol Metab Year: 2019 Document type: Article Affiliation country: Reino Unido Country of publication: Estados Unidos
Fulltext
Add to My VHL
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Proteins / Genetic Diseases, X-Linked / Neural Cell Adhesion Molecule L1 / Hypopituitarism Type of study: Prognostic_studies / Risk_factors_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: J Clin Endocrinol Metab Year: 2019 Document type: Article Affiliation country: Reino Unido Country of publication: Estados Unidos