Familial Isolated Growth Hormone Deficiency Due to A Novel Homozygous Missense Mutation in the Growth Hormone Releasing Hormone Receptor Gene: Clinical Presentation With Hypoglycemia

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Demirbilek H., Tahir S., Baran R. T., Sherif M., Shah P., Ozbek M. N., ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.99, no.12, 2014 (SCI-Expanded) identifier identifier identifier


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