Published January 1, 2014 | Version v1
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Familial Isolated Growth Hormone Deficiency Due to A Novel Homozygous Missense Mutation in the Growth Hormone Releasing Hormone Receptor Gene: Clinical Presentation With Hypoglycemia

  • 1. UCL, Inst Child Hlth, Clin & Mol Genet Unit, Dev Endocrinol Res Grp, London WC1N 1EH, England
  • 2. Diyarbakir Childrens State Hosp, Dept Radiol, Dept Paediat Endocrinol, TR-21100 Diyarbakir, Turkey
  • 3. Diyarbakir Childrens State Hosp, Dept Radiol, Dept Radiol, TR-21100 Diyarbakir, Turkey

Description

Context: Mutations in the growth hormone releasing hormone receptor (GHRHR) gene are a relatively rare cause of isolated growth hormone deficiency (IGHD).

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