Open AccessGrowth hormone releasing hormone receptor codon 72 mutation in a cohort of Sri Lankan patients with growth hormone deficiency
Author(s) -
K S H de Silva,
Kamani Hemamala Tennekoon,
Tharmini Sundralingam,
B. Navarathne,
Asanka Sudeshini Hewage,
W S de Silva,
D Ganihigama,
H.D. Jayasinghe,
M.E.C. Muhandiram
Publication year - 2016
Publication title -
ceylon medical journal/the ceylon medical journal
Language(s) - English
Resource type - Journals
eISSN - 2386-1274
pISSN - 0009-0875
DOI - 10.4038/cmj.v61i1.8257
Subject(s) - medicine , hormone , hormone receptor , growth hormone deficiency , growth hormone , cohort , mutation , endocrinology , sri lanka , receptor , growth hormone receptor , gene , genetics , cancer , south asia , breast cancer , biology , history , ethnology
Growth hormone releasing hormone receptor (GHRH-R) codon 72 mutation is recognised as a common genetic cause of growth hormone deficiency (GHD) in the Indian subcontinent resulting in a characteristic lean phenotype. Genetic studies have not been previously carried out in Sri Lankans with GHD.