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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Detalles Bibliográficos
Main Authors: Şıklar, Zeynep, Berberoğlu, Merih, Legendre, Maria, Amselem, Serge, Evliyaoğlu, Olcay, Hacıhamdioğlu, Bülent, Erdeve, Şenay Savaş, Öçal, Gönül
Formato: Artigo
Idioma:Inglês
Publicado: Galenos Publishing 2010
Assuntos:
Case Reports
Acceso en liña: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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