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

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

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.99, sa.12, 2014 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 99 Sayı: 12
Basım Tarihi: 2014
Doi Numarası: 10.1210/jc.2014-2696
Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Hacettepe Üniversitesi Adresli: Evet

Özet

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