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

<h3>Background</h3><p dir="ltr">Isolated 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,...

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Bibliographic Details
Main Author: Safeer Ahmad (9079257) (author)
Other Authors: Muhammad Zeeshan Ali (14854544) (author), Sumra Wajid Abbasi (10977711) (author), Safdar Abbas (6258965) (author), Iftikhar Ahmed (389088) (author), Shakil Abbas (19450495) (author), Shoaib Nawaz (7320875) (author), Mubarak Ziab (15430083) (author), Ikhlak Ahmed (150200) (author), Khalid A. Fakhro (3158862) (author), Muzammil Ahmad Khan (15891875) (author), Ammira Al-Shabeeb Akil (15143925) (author)
Published: 2023
Subjects:
Biological sciences
Genetics
Biomedical and clinical sciences
Clinical sciences
Medical biochemistry and metabolomics
isolated growth hormone deficiency (IGHD4)
Pakistani family
whole-exome sequencing
GHRHR
modeling
docking and simulation
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