Published January 1, 2014
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Novel Growth Hormone-Releasing Hormone Receptor Gene Mutations in Turkish Children with Isolated Growth Hormone Deficiency
- 1. Marmara Univ, Fac Med, Dept Med Genet, Istanbul, Turkey
- 2. Katip Celebi Univ, Fac Med, Dept Pediat Endocrinol, Izmir, Turkey
- 3. Endomer Pediat Endocrinol Ctr, Ankara, Turkey
- 4. Yeditepe Univ, Fac Med, Dept Genet & Bioengn, Istanbul, Turkey
- 5. Bilim Univ, Fac Med, Dept Pediat Endocrinol, Istanbul, Turkey
Description
Objective: Isolated growth hormone deficiency (IGHD) is defined as a medical condition associated with growth failure due to insufficient production of GH or lack of GH action. Mutations in the gene encoding for GH-releasing hormone receptor (GHRHR) have been detected in patients with IGHD type IB. However, genetic defects on GHRHR causing IGHD in the Turkish population have not yet been reported. To identify mutations on GHRHR gene in a population of Turkish children with IGHD.
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