ArticleCase reports in dentistry2020
Gingival Biopsy to Detect Mosaicism in Overgrowth Syndromes: Report of Two Cases of Megalencephaly-Capillary Malformation Syndrome with Periodontal Anomalies.
Article in Case reports in dentistry, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
- Familial CCM Genes Might Not Be Main Drivers for Pathogenesis of Sporadic CCMs-Genetic Similarity between Cancers and Vascular Malformations.Journal of personalized medicine · 2023Review
- A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.Clinical genetics · 2022Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMegalencephaly-capillary malformation (MCAP) is a rare overgrowth syndrome caused by postzygotic activating mutations in the
aimTo illustrate the benefits of gingival biopsy in the genetic diagnosis of overgrowth syndromes.
designGingival biopsy was performed on a 13-year-old patient and a 16-year-old patient with MCAP and who suffered from periodontal disease.
resultsPathogenic p.Glu365Lys and p.Glu545Asp
conclusionsConsidering the tissue distribution and level of somatic mosaicism for
Identifiers
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Registered trials
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