A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.

Safeer Ahmad,Muhammad Zeeshan Ali,Sumra Wajid Abbasi,Safdar Abbas,Iftikhar Ahmed,Shakil Abbas,Shoaib Nawaz,Mubarak Ziab,Ikhlak Ahmed,Khalid A Fakhro,Muzammil Ahmad Khan,Ammira Al-Shabeeb Akil

Frontiers in endocrinology（2023）

引用 0|浏览11

暂无评分

摘要

These data support that a p.Glu72* founder mutation in perturbs growth hormone signaling and causes IGHD type IV. and biochemical analyses support the pathogenic effect of this nonsense mutation, while our comprehensive phenotype and hormonal profiling has established the genotype-phenotype correlation. Based on the current study, early detection of may help in better therapeutic intervention.

查看译文

关键词

GHRHR,Pakistani family,docking and simulation,isolated growth hormone deficiency (IGHD4),modeling,whole-exome sequencing

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要