ArticleCold Spring Harbor molecular case studies2016
KBG syndrome involving a single-nucleotide duplication in
Article in Cold Spring Harbor molecular case studies, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 20 citations in OpenAlex.
- Insights into ANKRD11-related epilepsy from 163 people.Epilepsia · 2026Article
- RankVar: machine learning-based variant ranking and reinterpretation for rare genetic diseases.Genome medicine · 2026Article
- A Young Child With Global Developmental Delay and Epilepsy Secondary to a Novel Variant of KBG Syndrome.Cureus · 2026Article
- Clinical and genetic characteristics of and diagnostic insights on KBG syndrome in Chinese patients: a retrospective study and literature review.Orphanet journal of rare diseases · 2026Review
- Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.Orphanet journal of rare diseases · 2024Review
- 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: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.European journal of human genetics : EJHG · 2022Article
- First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean's founder population.Human genetics · 2022Article
- Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature.Journal of personalized medicine · 2022Article
- A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.BMC medical genomics · 2021Article
- Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases.NAR genomics and bioinformatics · 2020Article
- Molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: A case report.Experimental and therapeutic medicine · 2019Article
- Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.American journal of human genetics · 2018Article
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
KBG syndrome is a rare autosomal dominant genetic condition characterized by neurological involvement and distinct facial, hand, and skeletal features. More than 70 cases have been reported; however, it is likely that KBG syndrome is underdiagnosed because of lack of comprehensive characterization of the heterogeneous phenotypic features. We describe the clinical manifestations in a male currently 13 years of age, who exhibited symptoms including epilepsy, severe developmental delay, distinct facial features, and hand anomalies, without a positive genetic diagnosis. Subsequent exome sequencing identified a novel de novo heterozygous single base pair duplication (c.6015dupA) in
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