… has a mutation in the same PIK3R1 donor splice site as the three aforementioned patients
described to have both APDS2 and SHORT syndrome. However, this specific mutation is …

… of SHORT syndrome in patients with PIK3R1 mutation in … All patients with SHORT syndrome
have characteristic facial … Not all features described in the acronyms of SHORT syndrome …

… A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid
disease: a case report and review of the literature. BMC Med Genet. 2020;21(1):215. …

… We identified two de novo heterozygous mutations in PIK3R1 as the cause of SHORT
syndrome in two Chinese girls. Additionally, in terms of diabetes control, metformin works well in …

… mutation associated with SHORT syndrome along with agammaglobulinemia and to highlight
the importance of recognizing the features of SHORT syndrome. … 244dup, in the PIK3R1 …

… SHORT syndrome (short stature, hyperextensibility, ocular … a case of SHORT syndrome with
a novel PIK3R1 mutation (c.… to relieve insulin resistance in SHORT syndrome, our treatment …

… shown to cause SHORT syndrome (short stature–… SHORT syndrome and APDS2 are
attributable to different profiles of activation or repression of PIK3CA and PIK3CD by mutant PIK3R1 …

… syndrome is also caused by mutations in PIK3R1. Two reports have implied that SHORT
syndrome … some common clinical features of SHORT syndrome were absent. Nephrocalcinosis …

… variant in the PIK3R1 is the primary cause of SHORT syndrome … in the PIK3R1 have been
reported to cause SHORT syndrome (… reappraisal of SHORT syndrome with PIK3R1 mutations: …

… PIK3R1 is currently the only gene in which pathogenic variants are known to cause SHORT
syndrome. … Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of …