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

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 th...

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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10029353/ https://www.ncbi.nlm.nih.gov/pubmed/36960394 http://dx.doi.org/10.3389/fendo.2023.1066182

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