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

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

BackgroundIsolated growth hormone deficiency (IGHD) is caused by a severe shortage or absence of growth hormone (GH), which results in aberrant growth and development. Patients with IGHD type IV (IGHD4) have a short stature, reduced serum GH levels, and delayed bone age.ObjectivesTo identify the cau...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Endocrinology
Subjects:
isolated growth hormone deficiency (IGHD4)
Pakistani family
whole-exome sequencing
GHRHR
modeling
docking and simulation
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2023.1066182/full

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https://www.frontiersin.org/articles/10.3389/fendo.2023.1066182/full

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