Short stature due to 15q26 microdeletion involving IGF1R: Report of an additional case and review of the literature
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34310/fullpdf
Reference25 articles.
1. IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation;Abuzzahab;N Engl J Med,2003
2. Terminal deletion of chromosome 15q26.1: Case report and brief literature review;Bhakta;J Perinatol,2005
3. Congenital diaphragmatic hernia: Is 15q26.1-26.2 a candidate locus?;Biggio;Am J Med Genet Part A,2004
4. Brief clinical report and review; two patients with ring chromosome 15 syndrome;Butler;Am J Med Genet,1988
5. 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;J Clin Endocrinol Metab,2011
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