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
SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation.
Alcantara D et al.
Human Molecular Genetics, 2017
SHORT syndrome in a two-year-old girl - case report.
Klatka M et al.
Italian Journal of Pediatrics, 2017
PI3-kinase mutation linked to insulin and growth factor resistance in vivo.
Winnay JN et al.
The Journal of Clinical Investigation, 2016
Mutations in PIK3R1 cause SHORT syndrome.
Dyment DA et al.
American Journal of Human Genetics, 2013
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