Literature DB >> 24033310

Autosomal dominant PIK3R1 mutations cause SHORT syndrome.

B K Chung1, W T Gibson.   

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.

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Year:  2013        PMID： 24033310     DOI： 10.1111/cge.12262

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  4 in total

1.  Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.

Authors:  Slavé Petrovski; Roberta E Parrott; Joseph L Roberts; Hongxiang Huang; Jialong Yang; Balachandra Gorentla; Talal Mousallem; Endi Wang; Martin Armstrong; Duncan McHale; Nancie J MacIver; David B Goldstein; Xiao-Ping Zhong; Rebecca H Buckley
Journal:  J Clin Immunol       Date:  2016-04-13       Impact factor: 8.317

Review 2.  SHORT syndrome in a two-year-old girl - case report.

Authors:  Maria Klatka; Izabela Rysz; Katarzyna Kozyra; Agnieszka Polak; Witold Kołłątaj
Journal:  Ital J Pediatr       Date:  2017-05-04       Impact factor: 2.638

Review 3.  SHORT syndrome in two Chinese girls: A case report and review of the literature.

Authors:  Yanhong Zhang; Baolan Ji; Jinsheng Li; Yanying Li; Mei Zhang; Bo Ban
Journal:  Mol Genet Genomic Med       Date:  2020-06-29       Impact factor: 2.183

4.  A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature.

Authors:  Liying Sun; Qianwen Zhang; Qun Li; Yijun Tang; Yirou Wang; Xin Li; Niu Li; Jian Wang; Xiumin Wang
Journal:  BMC Med Genet       Date:  2020-10-31       Impact factor: 2.103
  4 in total

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