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

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Title: A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.
Authors: Ahmad S; Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I. Khan, Khyber Pakhtunkhwa, Pakistan., Ali MZ; Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I. Khan, Khyber Pakhtunkhwa, Pakistan., Abbasi SW; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Punjab, Pakistan., Abbas S; Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I. Khan, Khyber Pakhtunkhwa, Pakistan., Ahmed I; Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I. Khan, Khyber Pakhtunkhwa, Pakistan., Abbas S; Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I. Khan, Khyber Pakhtunkhwa, Pakistan., Nawaz S; Laboratory of Genomic Medicine-Precision Medicine Program, Sidra Medicine, Doha, Qatar., Ziab M; Department of Human Genetics, Precision Medicine of Diabetes Prevention Program, Sidra Medicine, Doha, Qatar., Ahmed I; Department of Human Genetics, Precision Medicine of Diabetes Prevention Program, Sidra Medicine, Doha, Qatar., Fakhro KA; Laboratory of Genomic Medicine-Precision Medicine Program, Sidra Medicine, Doha, Qatar.; Department of Genetic Medicine, Weill Cornell Medical College-Doha, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Khan MA; Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I. Khan, Khyber Pakhtunkhwa, Pakistan., Akil AA; Laboratory of Genomic Medicine-Precision Medicine Program, Sidra Medicine, Doha, Qatar.; Department of Human Genetics, Precision Medicine of Diabetes Prevention Program, Sidra Medicine, Doha, Qatar.
Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 Mar 07; Vol. 14, pp. 1066182. Date of Electronic Publication: 2023 Mar 07 (Print Publication: 2023).
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1664-2392
DOI:10.3389/fendo.2023.1066182