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, HÜSEYİN; Tahir, Sophia; Baran, Riza; Sherif, Maha; Shah, Pratik; Ozbek, Mehmet; Hatipoglu, Nebahat; Baran, Ahmet; Arya, Ved; Hussain, Khalid

doi:10.1210/jc.2014-2696

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)

Publication Type: Article / Article
Volume: 99 Issue: 12
Publication Date: 2014
Doi Number: 10.1210/jc.2014-2696
Journal Name: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Hacettepe University Affiliated: Yes

Abstract

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