ReviewItalian journal of pediatrics2017
SHORT syndrome in a two-year-old girl - case report.
Review in Italian journal of pediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 31 citations in OpenAlex.
- A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes.Journal of diabetes investigation · 2025Article
- PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis.Journal of diabetes investigation · 2025Article
- Diabetes mellitus in SHORT syndrome managed with multi-agent oral therapies: a case report and literature review.Therapeutic advances in endocrinology and metabolism · 2025Article
- A Novel Variant of the PIK3R1 Gene Mutation Associated With SHORT Syndrome and Agammaglobulinemia.Cureus · 2024Article
- Atypical diabetes arising from SHORT syndrome: a case report.Frontiers in endocrinology · 2024Article
- Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6-month follow up.Journal of diabetes investigation · 2021Article
- The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature.Molecular genetics and metabolism reports · 2021Article
- Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith-Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling.Frontiers in pediatrics · 2021Article
- Insulin resistance and exaggerated insulin sensitivity triggered by single-gene mutations in the insulin signaling pathway.Diabetology international · 2021Article
- A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature.BMC medical genetics · 2020Article
- APDS2 and SHORT Syndrome in a Teenager with PIK3R1 Pathogenic Variant.Journal of clinical immunology · 2020Article
- Inhibition of the PI 3-kinase pathway disrupts the unfolded protein response and reduces sensitivity to ER stress-dependent apoptosis.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
- SHORT syndrome in two Chinese girls: A case report and review of the literature.Molecular genetics & genomic medicine · 2020Review
- A case of Axenfeld-Rieger syndrome (ARS) with asymmetric ocular phenotypes and left glaucomatous optic atrophy.BMJ case reports · 2020Article
- Familial Partial Lipodystrophy (FPLD): Recent Insights.Diabetes, metabolic syndrome and obesity : targets and therapy · 2020Review
- Molecular Mechanisms of Human Disease Mediated by Oncogenic and Primary Immunodeficiency Mutations in Class IA Phosphoinositide 3-Kinases.Frontiers in immunology · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown. CASE PRESENTATION: We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular depression, lipodystrophy at the lumbar region and around elbows), consistent with the phenotype described for this syndrome. The molecular analysis showed the presence of heterozygous variant c.1956dupT (p.Lys653*) in exon 15 of PIK3R1.
conclusionsThe frequency of the disease still remains unknown; solely several dozen cases have been described worldwide.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.