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Article

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population

20 Nov 2018

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 30459467
DOI: 10.1038/s10038-018-0536-6

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Related research

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A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general populationPMID 30459467Read ↗

[Analysis of genetic variants and clinical manifestations of two children with Kabuki syndrome].Semantic proximity Read ↗

[Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene].Semantic proximity Read ↗

Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.Semantic proximity Read ↗

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.Semantic proximity Read ↗

Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review.Semantic proximity Read ↗

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.Semantic proximity Read ↗

Novel Variants in KMT2C Further Support a Neurodevelopmental Disorder Distinct From Kleefstra and Kabuki Syndromes.Semantic proximity Read ↗

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.Semantic proximity Read ↗

KMT2D-related disorder with a restricted spectrum distinct from Kabuki syndrome: A rare case report describing male twins in Taiwan and a literature review.Semantic proximity Read ↗

Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.Semantic proximity Read ↗

Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype.Semantic proximity Read ↗

[Two novel and de novo KMT2D mutations on the same allele cause Kabuki syndrome].Semantic proximity Read ↗

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