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Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis.
Alesi, Viola; Dentici, Maria Lisa; Genovese, Silvia; Loddo, Sara; Bellacchio, Emanuele; Orlando, Valeria; Di Tommaso, Silvia; Catino, Giorgia; Calacci, Chiara; Calvieri, Giusy; Pompili, Daniele; Ubertini, Graziamaria; Dallapiccola, Bruno; Capolino, Rossella; Novelli, Antonio.
Affiliation
  • Alesi V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Dentici ML; Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Genovese S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Loddo S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Bellacchio E; Department of Research Laboratories, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Orlando V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Di Tommaso S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Catino G; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Calacci C; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Calvieri G; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Pompili D; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Ubertini G; Endocrine Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Dallapiccola B; Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Capolino R; Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
  • Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Int J Mol Sci ; 22(2)2021 Jan 13.
Article in En | MEDLINE | ID: mdl-33451138
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteoporosis / Homeodomain Proteins / Human Growth Hormone / Collagen Type I / Homozygote / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Humans / Male Language: En Journal: Int J Mol Sci Year: 2021 Document type: Article Affiliation country: Italy Country of publication: Switzerland
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteoporosis / Homeodomain Proteins / Human Growth Hormone / Collagen Type I / Homozygote / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Humans / Male Language: En Journal: Int J Mol Sci Year: 2021 Document type: Article Affiliation country: Italy Country of publication: Switzerland