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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التفاصيل البيبلوغرافية
المؤلف الرئيسي:	Safeer Ahmad (9079257) (author)
مؤلفون آخرون:	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)
منشور في:	2023
الموضوعات:	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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A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family

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