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A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature.
Crippa, M; Giangiobbe, S; Villa, R; Bestetti, I; De Filippis, T; Fatti, L; Taurino, J; Larizza, L; Persani, L; Bellini, F; Finelli, P; Bonati, M T.
Afiliação
  • Crippa M; Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano, via Ariosto 13, 20145, Milan, Italy.
  • Giangiobbe S; Clinic of Medical Genetics, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149, Milan, Italy.
  • Villa R; Clinic of Medical Genetics, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149, Milan, Italy.
  • Bestetti I; Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano, via Ariosto 13, 20145, Milan, Italy.
  • De Filippis T; Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, IRCSS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149, Milan, Italy.
  • Fatti L; Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, IRCSS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149, Milan, Italy.
  • Taurino J; Clinic of Medical Genetics, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149, Milan, Italy.
  • Larizza L; Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano, via Ariosto 13, 20145, Milan, Italy.
  • Persani L; Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, IRCSS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149, Milan, Italy.
  • Bellini F; Department of Clinic Sciences and Community Health, Università degli Studi, Milan, via Sforza 35, 20122, Milan, Italy.
  • Finelli P; Department of Radiology, IRCCS Istituto Auxologico Italiano, Casa di Cura Capitanio, via Giuseppe Mercalli 28, 20122, Milan, Italy.
  • Bonati MT; Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano, via Ariosto 13, 20145, Milan, Italy.
J Endocrinol Invest ; 41(8): 929-936, 2018 Aug.
Article em En | MEDLINE | ID: mdl-29302920
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Translocação Genética / Cromossomos Humanos Par 10 / Cromossomos Humanos Par 15 / Nanismo Tipo de estudo: Observational_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: J Endocrinol Invest Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Translocação Genética / Cromossomos Humanos Par 10 / Cromossomos Humanos Par 15 / Nanismo Tipo de estudo: Observational_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: J Endocrinol Invest Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália