Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report

Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report

Abstract Background Human growth hormone (hGH) plays a crucial role in growth by binding to growth hormone receptor (GHR) in target cells. Binding of GH molecules to their cognate receptors triggers downstream signaling pathways leading to the transcription of several genes, including insulin-like g...

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Bibliographic Details
Main Authors: Fatemeh Bitarafan, Mehrnoosh Khodaeian, Fatemeh Garrousi, Raziyeh Khalesi, Donya Ghazi Nader, Behnam Karimi, Reza Alibakhshi, Masoud Garshasbi
Format: Article
Language:English
Published: BMC 2023-07-01
Series:BMC Endocrine Disorders
Subjects:
Laron Syndrome (LS)
GHR
Whole Exome Sequencing (WES)
Iranian population
Case report
Online Access:https://doi.org/10.1186/s12902-023-01388-1

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