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
Autores principales: Şıklar, Zeynep, Berberoğlu, Merih, Legendre, Maria, Amselem, Serge, Evliyaoğlu, Olcay, Hacıhamdioğlu, Bülent, Erdeve, Şenay Savaş, Öçal, Gönül
Formato: Texto
Lenguaje:English
Publicado: Galenos Publishing 2010
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005690/
https://www.ncbi.nlm.nih.gov/pubmed/21274317
http://dx.doi.org/10.4274/jcrpe.v2i4.164

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005690/
https://www.ncbi.nlm.nih.gov/pubmed/21274317
http://dx.doi.org/10.4274/jcrpe.v2i4.164

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