Article
A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.
Frontiers in endocrinology - 1 Jan 2023
Ahmad Safeer, Ali Muhammad Zeeshan, Abbasi Sumra Wajid, Abbas Safdar, Ahmed Iftikhar, Abbas Shakil, Nawaz Shoaib, Ziab Mubarak, Ahmed Ikhlak, Fakhro Khalid A, Khan Muzammil Ahmad, Akil Ammira Al-Shabeeb
Abstract excerpt
Background: 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, and delayed bone age. Objectives: To identify the causative mutation of IGHD in a consanguineous family comprising four affected patients with IGHD4 (MIM#618157)...
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