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Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism.

Autor: Santiago de Sousa Azulay R; Endocrinology Unit, University Hospital of the Federal University of Maranhão (HUUFMA), São Luís, Brazil.; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil., Magalhães M; Endocrinology Unit, University Hospital of the Federal University of Maranhão (HUUFMA), São Luís, Brazil.; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil.; Clinical Research Center of the University Hospital of the Federal University of Maranhão (CEPEC - HUUFMA), São Luís, Brazil., Tavares MDG; Endocrinology Unit, University Hospital of the Federal University of Maranhão (HUUFMA), São Luís, Brazil.; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil., Dualibe R; Endocrinology Unit, University Hospital of the Federal University of Maranhão (HUUFMA), São Luís, Brazil.; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil., Barbosa L; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil., Sá Gaspar S; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil., Faria AM; Neuroendocrine Unit, Functional Neurosurgery Division, Psychiatry Institute, Hospital das Clínicas, University of São Paulo Medical School, São Paulo, Brazil., Nascimento GC; Endocrinology Unit, University Hospital of the Federal University of Maranhão (HUUFMA), São Luís, Brazil.; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil., Damianse SDSP; Endocrinology Unit, University Hospital of the Federal University of Maranhão (HUUFMA), São Luís, Brazil.; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil., Rocha VCC; Endocrinology Unit, University Hospital of the Federal University of Maranhão (HUUFMA), São Luís, Brazil.; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil., Gomes MB; Diabetes Unit, State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil., Dos Santos Faria M; Endocrinology Unit, University Hospital of the Federal University of Maranhão (HUUFMA), São Luís, Brazil.; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil.; Clinical Research Center of the University Hospital of the Federal University of Maranhão (CEPEC - HUUFMA), São Luís, Brazil.

Publikováno v: The American journal of case reports [Am J Case Rep] 2020 Apr 24; Vol. 21, pp. e923108. Date of Electronic Publication: 2020 Apr 24.