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Two novel truncating variants of the AAAS gene causative of the triple A syndrome.
Vezzoli, V; Duminuco, P; Pogliaghi, G; Saccone, M; Cangiano, B; Rosatelli, M C; Meloni, A; Persani, L; Bonomi, M.
Affiliation
  • Vezzoli V; Dipartimento di Scienze Cliniche e di Comunità, Division of Endocrine and Metabolic Diseases and Lab. of Endocrine and Metabolic Research, Dipartimento di Medicina Endocrino-Metabolica, Università degli studi di Milano, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149, Milano, Italy.
  • Duminuco P; Dipartimento di Scienze Cliniche e di Comunità, Division of Endocrine and Metabolic Diseases and Lab. of Endocrine and Metabolic Research, Dipartimento di Medicina Endocrino-Metabolica, Università degli studi di Milano, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149, Milano, Italy.
  • Pogliaghi G; Dipartimento di Scienze Cliniche e di Comunità, Division of Endocrine and Metabolic Diseases and Lab. of Endocrine and Metabolic Research, Dipartimento di Medicina Endocrino-Metabolica, Università degli studi di Milano, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149, Milano, Italy.
  • Saccone M; Dipartimento di Scienze Cliniche e di Comunità, Division of Endocrine and Metabolic Diseases and Lab. of Endocrine and Metabolic Research, Dipartimento di Medicina Endocrino-Metabolica, Università degli studi di Milano, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149, Milano, Italy.
  • Cangiano B; Dipartimento di Scienze Cliniche e di Comunità, Division of Endocrine and Metabolic Diseases and Lab. of Endocrine and Metabolic Research, Dipartimento di Medicina Endocrino-Metabolica, Università degli studi di Milano, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149, Milano, Italy.
  • Rosatelli MC; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
  • Meloni A; Pediatric Hospital "Microcitemico" Antonio Cao, Azienda Ospedaliera Brotzu, University of Cagliari, Cagliary, Italy.
  • Persani L; Pediatric Hospital "Microcitemico" Antonio Cao, Azienda Ospedaliera Brotzu, University of Cagliari, Cagliary, Italy.
  • Bonomi M; Dipartimento di Scienze Cliniche e di Comunità, Division of Endocrine and Metabolic Diseases and Lab. of Endocrine and Metabolic Research, Dipartimento di Medicina Endocrino-Metabolica, Università degli studi di Milano, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149, Milano, Italy.
J Endocrinol Invest ; 43(7): 973-982, 2020 Jul.
Article in En | MEDLINE | ID: mdl-31939195
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Esophageal Achalasia / Adrenal Insufficiency / Codon, Nonsense / Nuclear Pore Complex Proteins / Nerve Tissue Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: J Endocrinol Invest Year: 2020 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Esophageal Achalasia / Adrenal Insufficiency / Codon, Nonsense / Nuclear Pore Complex Proteins / Nerve Tissue Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: J Endocrinol Invest Year: 2020 Document type: Article Affiliation country: Country of publication: