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Unusual Phenotypic Features in a Patient with a Novel Splice Mutation in the GHRHR Gene

Isolated growth hormone deficiency (IGHD) may be of genetic origin. One of the few genes involved in that condition encodes the growth hormone releasing hormone receptor (GHRHR) that, through its ligand (GHRH), plays a pivotal role in the GH synthesis and secretion by the pituitary. Our objective is...

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Библиографические подробности
Главные авторы: Hilal, Latifa, Hajaji, Yassir, Vie-Luton, Marie-Pierre, Ajaltouni, Zeina, Benazzouz, Bouchra, Chana, Maha, Chraïbi, Adelmajid, Kadiri, Abdelkrim, Amselem, Serge, Sobrier, Marie-Laure
Формат: Artigo
Язык:Inglês
Опубликовано: ScholarOne 2008
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2249753/
https://ncbi.nlm.nih.gov/pubmed/18297129
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2119/2007-00128.Hilal
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