病例报告:关于患有GCK遗传变异的患者临床表现的新见解

Ritiele Bastos de Souza1, Gabriella de Medeiros Abreu1,2, Marília Chaves Bernardo3

  • 1Laboratory of Human Genetics, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil.

PubMed
概括

这项研究确定了导致GCK-MODY (Glucokinase Maturity-Onset Diabetes of the Young) 的GCK基因中的新型框架转移变异. 一名患者表现出不典型的症状,如多尿症和多滴水症,突出显示需要对完整的GCK-MODY表型进行表征.

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