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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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Bibliografiska uppgifter
Huvudupphovsmän: Hilal, Latifa, Hajaji, Yassir, Vie-Luton, Marie-Pierre, Ajaltouni, Zeina, Benazzouz, Bouchra, Chana, Maha, Chraïbi, Adelmajid, Kadiri, Abdelkrim, Amselem, Serge, Sobrier, Marie-Laure
Materialtyp: Artigo
Språk:Inglês
Publicerad: ScholarOne 2008
Ämnen:
Länkar: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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