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


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

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.99, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 99 Konu: 12
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1210/jc.2014-2696
  • Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Özet

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