Associated Papers
SHORT syndrome with microcephaly and developmental delay.
Patel V et al.
American Journal of Medical Genetics. Part A, 2023
The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature.
Lee CL et al.
Molecular Genetics and Metabolism Reports, 2021
SHORT syndrome in two Chinese girls: A case report and review of the literature.
Zhang Y et al.
Molecular Genetics & Genomic Medicine, 2020
Mice Carrying a Dominant-Negative Human PI3K Mutation Are Protected From Obesity and Hepatic Steatosis but Not Diabetes.
Solheim MH et al.
Diabetes, 2018
PI3-kinase mutation linked to insulin and growth factor resistance in vivo.
Winnay JN et al.
The Journal of Clinical Investigation, 2016
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.
Thauvin-Robinet C et al.
American Journal of Human Genetics, 2013
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