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

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 growth fa...

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Detalles Bibliográficos
Autores principales: Bitarafan, Fatemeh, Khodaeian, Mehrnoosh, Garrousi, Fatemeh, Khalesi, Raziyeh, Ghazi Nader, Donya, Karimi, Behnam, Alibakhshi, Reza, Garshasbi, Masoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10357607/
https://www.ncbi.nlm.nih.gov/pubmed/37474955
http://dx.doi.org/10.1186/s12902-023-01388-1