… SHORT syndrome is also characterized by partial … 1-PIK3R1) [2, 3]. According to the most
comprehensive overview of … , mutation in insulin signalling causing the SHORT syndrome (PI3K…

… (Glu599Lys) of PRKCE, which encodes the ε isoform of protein kinase C (PKCε), was identified
in an individual with clinical features of SHORT syndrome but without a PIK3R1 mutation […

… Constitutional PIK3R1 mutations cause diseases with a … of-function mutations cause SHORT
syndrome, featuring insulin … that overexpression of two SHORT syndrome PIK3R1 variants – …

… PIK3R1 LOF mutations, we used our Pik3r1 LOF mouse model to track the kinetics and
magnitude of a T-dependent B cell response in vivo. Pik3r1 … of the SHORT syndrome (Table S1). …

… in lesional Sweet syndrome skin caused by a PIK3R1 gain-of-function mutation specifically
found … to identify a gain-of-function PIK3R1 mutation in neutrophils from a patient with Sweet …

… in PIK3R1 can be associated with autosomal dominant growth delay and insulin resistance
(SHORT syndrome: short stature, … with the effects of the cancer hotspot mutations of PIK3CA. …

… in a different phenotype known as SHORT syndrome (short stature, hyperextensibility, hernia,
… Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation …

… However, the SHORT syndrome is another he- reditary human disease caused by … The
SHORT syndrome is characterized by short stature, ocular depression Rieger anomaly of the eye, …

… a variable association of short stature, congenital heart defect … Mutations associated with
NS typically cause dysregulation … with typical SHORT syndrome linked to PIK3R1 pathogenic …

… Mutations in PIK3R1 cause SHORT syndrome. American journal of human genetics. 2013;…
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for …