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Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism.
Choukair, Daniela; Eberle, Birgit; Vick, Philipp; Hermanns, Pia; Weiss, Birgit; Paramasivam, Nagarajan; Schlesner, Matthias; Lornsen, Katharina; Roeth, Ralph; Klutmann, Carina; Kreis, Jennifer; Hoffmann, Georg F; Pohlenz, Joachim; Rappold, Gudrun A; Bettendorf, Markus.
Affiliation
  • Choukair D; Division of Paediatric Endocrinology, Children's Hospital, University of Heidelberg, Heidelberg, Germany, daniela.choukair@med.uni-heidelberg.de.
  • Eberle B; Department of Human Molecular Genetics, University of Heidelberg, Heidelberg, Germany.
  • Vick P; Department of Zoology, University of Hohenheim, Stuttgart, Germany.
  • Hermanns P; Division of Paediatric Endocrinology, Children's Hospital, University of Mainz, Mainz, Germany.
  • Weiss B; Department of Human Molecular Genetics, University of Heidelberg, Heidelberg, Germany.
  • Paramasivam N; Theoretical Bioinformatics Division, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Schlesner M; Bioinformatics and Omics Data Analytics (B240), German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Lornsen K; Genomics and Proteomics Core Facility, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Roeth R; Department of Human Molecular Genetics, University of Heidelberg, Heidelberg, Germany.
  • Klutmann C; Division of Paediatric Endocrinology, Children's Hospital, University of Mainz, Mainz, Germany.
  • Kreis J; Department of Zoology, University of Hohenheim, Stuttgart, Germany.
  • Hoffmann GF; Division of Paediatric Endocrinology, Children's Hospital, University of Heidelberg, Heidelberg, Germany.
  • Pohlenz J; Division of Paediatric Endocrinology, Children's Hospital, University of Mainz, Mainz, Germany.
  • Rappold GA; Department of Human Molecular Genetics, University of Heidelberg, Heidelberg, Germany.
  • Bettendorf M; Division of Paediatric Endocrinology, Children's Hospital, University of Heidelberg, Heidelberg, Germany.
Horm Res Paediatr ; 93(1): 16-29, 2020.
Article in En | MEDLINE | ID: mdl-32428920

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Congenital Hypothyroidism / Thyroid Dysgenesis / I-kappa B Kinase / TRPC Cation Channels / Mutation Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: En Journal: Horm Res Paediatr Journal subject: ENDOCRINOLOGIA / PEDIATRIA Year: 2020 Document type: Article Country of publication: Switzerland

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Congenital Hypothyroidism / Thyroid Dysgenesis / I-kappa B Kinase / TRPC Cation Channels / Mutation Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: En Journal: Horm Res Paediatr Journal subject: ENDOCRINOLOGIA / PEDIATRIA Year: 2020 Document type: Article Country of publication: Switzerland