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Two Siblings with Isolated GH Deficiency Due to Loss−of−Function Mutation in the GHRHR Gene: Successful Treatment with Growth Hormone Despite Late Admission and Severe Growth Retardation

Patients with growth hormone releasing hormone receptor (GHRHR) mutations exhibit pronounced dwarfism and are phenotypically and biochemically indistinguishable from other forms of isolated growth hormone deficiency (IGHD). We presented here two siblings with clinical findings of IGHD due to a nonse...

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Main Authors: Şıklar, Zeynep, Berberoğlu, Merih, Legendre, Maria, Amselem, Serge, Evliyaoğlu, Olcay, Hacıhamdioğlu, Bülent, Erdeve, Şenay Savaş, Öçal, Gönül
格式: Artigo
語言:Inglês
出版: Galenos Publishing 2010
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3005690/
https://ncbi.nlm.nih.gov/pubmed/21274317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.v2i4.164
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