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Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital.

Clinics (Sao Paulo, Brazil) - 1 Jan 2022

Narcizo Amanda M, Cardoso Lais C, Benedetti Anna F F, Jorge Alexander A L, Funari Mariana F A, Braga Barbara L, Franca Monica M, Montenegro Luciana R, Lerario Antonio M, Nishi Mirian Y, Mendonca Berenice B

Abstract excerpt

OBJECTIVES: To analyze the efficiency of a multigenic targeted massively parallel sequencing panel related to endocrine disorders for molecular diagnosis of patients assisted in a tertiary hospital involved in the training of medical faculty. MATERIAL AND METHODS: Retrospective analysis of the clinical diagnosis and genotype obtained from 272 patients in the Endocrine unit of a tertiary hospital was performed...

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PMID: 36288632
DOI: 10.1016/j.clinsp.2022.100132
PMCID: PMC9593712

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