Výsledky vyhledávání - "Nesrin El-Khatib"

Growth Hormone Insensitivity and Severe Short Stature in Siblings: A Novel Mutation at the Exon 13-Intron 13 Junction of the STAT5b Gene

Autor: Vivian Hwa, Alessia David, Nesrin El-Khatib, Brian M. Little, Martin O. Savage, Ron G. Rosenfeld, Lou Metherell, Cecilia Camacho-Hübner

Publikováno v: Hormone Research in Paediatrics. 68:218-224

Background/Aims: Growth hormone insensitivity (GHI) is characterized by severe short stature, high serum growth hormone (GH), low serum IGF-I and IGFBP-3 levels and is classically associated with genetic defects of the GH receptor (GHR). Recently, mu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::482ca849cd6706a721c7ddeb961b41e0
https://doi.org/10.1159/000101334

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Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene

Autor: Vivian, Hwa, Cecilia, Camacho-Hübner, Brian M, Little, Alessia, David, Lou A, Metherell, Nesrin, El-Khatib, Martin O, Savage, Ron G, Rosenfeld

Publikováno v: Hormone research. 68(5)

Growth hormone insensitivity (GHI) is characterized by severe short stature, high serum growth hormone (GH), low serum IGF-I and IGFBP-3 levels and is classically associated with genetic defects of the GH receptor (GHR). Recently, mutations of the ST

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::14883c251ef47524dea14560968ebaec
https://pubmed.ncbi.nlm.nih.gov/17389811

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