Comment
doi: 10.1111/cge.12262.
Epub 2013 Sep 23.
Autosomal dominant PIK3R1 mutations cause SHORT syndrome
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- PMID: 24033310
- DOI: 10.1111/cge.12262
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Comment
Autosomal dominant PIK3R1 mutations cause SHORT syndrome
Clin Genet.
2014 Mar.
Abstract
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Thauvin-Robinet et al. (2013) The American Journal of Human Genetics 93: 141-149 SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signalling. Chudasama et al. (2013) The American Journal of Human Genetics 93: 150-157 Mutations in PIK3R1 cause SHORT syndrome. Dyment et al. (2013) The American Journal of Human Genetics 93: 158-166.
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Comment on
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HLA-DQ primarily confers protection and HLA-DR susceptibility in type I (insulin-dependent) diabetes studied in population-based affected families and controls.Am J Hum Genet. 1993 Jul;53(1):150-67. Am J Hum Genet. 1993. PMID: 8317480 Free PMC article.
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PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.Am J Hum Genet. 2013 Jul 11;93(1):141-9. doi: 10.1016/j.ajhg.2013.05.019. Epub 2013 Jun 27. Am J Hum Genet. 2013. PMID: 23810378 Free PMC article.
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Mutations in PIK3R1 cause SHORT syndrome.Am J Hum Genet. 2013 Jul 11;93(1):158-66. doi: 10.1016/j.ajhg.2013.06.005. Epub 2013 Jun 27. Am J Hum Genet. 2013. PMID: 23810382 Free PMC article.
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