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A nonsense mutation (E72X) in growth hormone releasing hormone receptor (GHRHR) gene is the major cause of familial isolated growth hormone deficiency in Western region of India: founder effect suggested by analysis of dinucleotide repeat polymorphism close to GHRHR gene.
Kamijo T, Hayashi Y, Seo H, Yamamoto M, Ogawa M, Choski CS, Sawant NJ, Colaco MP, Desai MP. Kamijo T, et al. Growth Horm IGF Res. 2004 Oct;14(5):394-401. doi: 10.1016/j.ghir.2004.05.001. Growth Horm IGF Res. 2004. PMID: 15336233
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