Autosomal dominant PIK3R1 mutations cause SHORT syndrome
Author:
Affiliation:
1. Department of Medical GeneticsUniversity of British ColumbiaVancouver BC V5Z 4H4 Canada
2. Laboratory for Obesity Genetics and Indirect CalorimetryChild & Family Research InstituteVancouver BC V5Z 4H4 Canada
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12262
Reference2 articles.
1. The SHORT syndrome: further delineation and natural history.
2. PTEN Mutations as a Cause of Constitutive Insulin Sensitivity and Obesity
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