父亲和儿子的中部无味糖尿病与一种罕见的变体有关:一个病例报告

Paula Bruna Mattos Coelho Araujo1, Luiz Filipe Rocha de Sá2, Rafaela Sousa3

  • 1Pós-graduação em Endocrinologia, Faculdade de Medicina, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.

Biomedicine hub
|July 3, 2025
PubMed
概括

在阿尔金血压素 (AVP) 基因中发生的罕见遗传突变会导致家族性中央糖尿病无味症 (CDI). 这项研究在父亲和儿子身上发现了一种致病性AVP变体,证实了它在遗传性CDI中的作用.

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