ArticleTranslational pediatrics2021
Comprehensive analysis of clinical spectrum and genotype associations in Chinese and literature reported KBG syndrome.
Article in Translational pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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Who cites it
12 citing papers in PubMed, 12 citations in OpenAlex.
- Prenatal diagnosis and genetic counseling of aThe Journal of international medical research · 2026Article
- NovelSultan Qaboos University medical journal · 2026Article
- Clinical features and management of 16q24.3 microdeletion KBG syndrome: literature review.Frontiers in pediatrics · 2026Article
- KBG syndrome complicated with chylothorax in a newborn: a case report and literature review.Frontiers in pediatrics · 2025Article
- Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.Orphanet journal of rare diseases · 2024Review
- Functional investigation of a novelHeliyon · 2024Article
- Identification of Two NovelAnnals of laboratory medicine · 2024Article
- Epileptic dyskinetic encephalopathy in KBG syndrome: Expansion of the phenotype.Epilepsy & behavior reports · 2024Article
- Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.Epilepsia open · 2023Article
- KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.Molecular genetics & genomic medicine · 2023Review
- Natural history of KBG syndrome in a large European cohort.Human molecular genetics · 2022Article
- Expanding the Molecular Spectrum ofInternational journal of molecular sciences · 2022Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPatients with KBG Syndrome due to
methodsThe genetic etiology of three unreported KBG patients was identified by whole exome sequencing and confirmed via Sanger sequencing. Literature review was conducted to summarize the phenotype-genotype relationship based on three unreported Chinese cases and 186 reported cases.
resultsTwo pathological variants (c.7407dupC, p.P2530Rfs*61; c.G3046A, p.D1016N) and one reported variant (c.6792dupC, p. P2271Pfs*8) were detected in our patients. Compared with the 16q24.3 microdeletion, patients harboring
conclusionsNovel pathological variants harbored in the
Indexed as
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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.