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A mosaic de novo duplication of 17q21-25 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF-κB activation.
Mul, D; Wu, S; de Paus, R A; Oostdijk, W; Lankester, A C; Duyvenvoorde, H A van; Ruivenkamp, C A L; Losekoot, M; Tol, M J D van; De Luca, F; van de Vosse, E; Wit, J M.
Affiliation
  • Mul D; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
Eur J Endocrinol ; 166(4): 743-52, 2012 Apr.
Article in En | MEDLINE | ID: mdl-22214923
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 17 / NF-kappa B / CD28 Antigens / Phosphatidylinositol 3-Kinases / Laron Syndrome / STAT5 Transcription Factor / Chromosome Duplication Type of study: Risk_factors_studies Limits: Child, preschool / Female / Humans Language: En Journal: Eur J Endocrinol Journal subject: ENDOCRINOLOGIA Year: 2012 Document type: Article Affiliation country: Países Bajos Country of publication: Reino Unido
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 17 / NF-kappa B / CD28 Antigens / Phosphatidylinositol 3-Kinases / Laron Syndrome / STAT5 Transcription Factor / Chromosome Duplication Type of study: Risk_factors_studies Limits: Child, preschool / Female / Humans Language: En Journal: Eur J Endocrinol Journal subject: ENDOCRINOLOGIA Year: 2012 Document type: Article Affiliation country: Países Bajos Country of publication: Reino Unido