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Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure.
Choi JH, Kang M, Kim GH, Hong M, Jin HY, Lee BH, Park JY, Lee SM, Seo EJ, Yoo HW. Choi JH, et al. Among authors: kang m. J Clin Endocrinol Metab. 2011 Jan;96(1):E130-4. doi: 10.1210/jc.2010-1789. Epub 2010 Oct 20. J Clin Endocrinol Metab. 2011. PMID: 20962017
Low prevalence of classical galactosemia in Korean population.
Lee BH, Cheon CK, Kim JM, Kang M, Kim JH, Yang SH, Kim GH, Choi JH, Yoo HW. Lee BH, et al. Among authors: kang m. J Hum Genet. 2011 Jan;56(1):94-6. doi: 10.1038/jhg.2010.152. Epub 2010 Dec 9. J Hum Genet. 2011. PMID: 21150919
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