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Updated: Jun 7, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Published on: April 4, 2018

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在NESP55/NESPAS中经常出现的小变异与广泛的GNAS甲基化缺陷和类型1B的伪低甲状腺症相关

Dong Li1,2,3, Suzanne Jan de Beur4, Cuiping Hou1

  • 1Center for Applied Genomics, and.

JCI insight
|November 14, 2024
PubMed
概括

在GNAS基因中的遗传变异通过破坏GNAS印记并导致副甲状腺激素耐药性,导致1B类型的伪副甲状腺症 (PHP1B). 这项研究确定了小GNAS删除是PHP1B的关键遗传原因.

关键词:
骨疾病是一种骨疾病.内分泌学 在内分泌学.遗传性疾病是一种遗传性疾病.遗传学 遗传学 是一个分子诊断是一种分子诊断.

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