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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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書誌詳細
主要な著者: Şıklar, Zeynep, Berberoğlu, Merih, Legendre, Maria, Amselem, Serge, Evliyaoğlu, Olcay, Hacıhamdioğlu, Bülent, Erdeve, Şenay Savaş, Öçal, Gönül
フォーマット: Artigo
言語:Inglês
出版事項: Galenos Publishing 2010
主題:
オンライン・アクセス: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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