Article
Pathogenic and likely pathogenic genetic alterations and polymorphisms in growth hormone gene (GH1) and growth hormone releasing hormone receptor gene (GHRHR) in a cohort of isolated growth hormone deficient (IGHD) children in Sri Lanka.
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society - 1 Oct 2017
Sundralingam Tharmini, Tennekoon Kamani Hemamala, de Silva Shamya, De Silva Sumadee, Hewage Asanka Sudeshini
Abstract excerpt
OBJECTIVE: Genetic alterations in GH1 and GHRHR genes are known to cause isolated growth hormone deficiency (IGHD). Of these, GHRHR codon 72 mutation has been reported to be highly prevalent in the Indian subcontinent, but among Sri Lankans its prevalence was low compared to reports from neighboring countries. The present study was therefore carried out to identify genetic alterations in the GH1 gene and rest of...
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