APDS2 and SHORT syndrome in a teenager with PIK3R1 pathogenic variant
L Ramirez, W Tamayo, H Ale - Journal of Clinical Immunology, 2020 - Springer
… 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 …
described to have both APDS2 and SHORT syndrome. However, this specific mutation is …
[HTML][HTML] A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature
L Sun, Q Zhang, Q Li, Y Tang, Y Wang, X Li, N Li… - BMC Medical …, 2020 - Springer
… 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 …
have characteristic facial … Not all features described in the acronyms of SHORT syndrome …
Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance
A Szczawińska-Popłonyk, K Bernat-Sitarz… - Allergologia et …, 2022 - all-imm.com
… 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. …
disease: a case report and review of the literature. BMC Med Genet. 2020;21(1):215. …
SHORT syndrome in two Chinese girls: A case report and review of the literature
Y Zhang, B Ji, J Li, Y Li, M Zhang… - Molecular Genetics & …, 2020 - Wiley Online Library
… 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 …
syndrome in two Chinese girls. Additionally, in terms of diabetes control, metformin works well in …
Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6‐month follow up
X Yin, J Liu, R Feng, M Xu, J Liu - Journal of Diabetes …, 2021 - Wiley Online Library
… 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 …
a novel PIK3R1 mutation (c.… to relieve insulin resistance in SHORT syndrome, our treatment …
[HTML][HTML] Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth
CE Cottrell, NR Bender, MT Zimmermann… - Genetics in …, 2021 - nature.com
… 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 …
attributable to different profiles of activation or repression of PIK3CA and PIK3CD by mutant PIK3R1 …
SHORT syndrome in an 11-year-old boy–case report
A Badeński, M Stojewska, K Ziora… - Pediatria Polska-Polish …, 2019 - termedia.pl
… mutation (R649W) occurred in one allele of the PIK3R1 gene (… PIK3R1 gene and is correlated
with the clinical symptoms of … novel mutation in PIK3R1 as the cause of SHORT syndrome. …
with the clinical symptoms of … novel mutation in PIK3R1 as the cause of SHORT syndrome. …
SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum
NF Shvalb - Current Diabetes Reports, 2022 - Springer
… 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 …
syndrome … some common clinical features of SHORT syndrome were absent. Nephrocalcinosis …
[HTML][HTML] The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature
CL Lee, CK Chuang, HC Chiu, RY Tu, YT Lo… - Molecular Genetics and …, 2021 - Elsevier
… 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: …
reported to cause SHORT syndrome (… reappraisal of SHORT syndrome with PIK3R1 mutations: …
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