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Article

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

Neurogenetics - 9 May 2026

Ozcelik Firat, Duman Nilgun, Kiraz Aslihan, Oz Ozlem, Demir Mikail, Dogan Alper, Ozturk Selcan, Cicek Dilek, Trabzon Gul Direk, Ozkul Yusuf, Per Huseyin, Dundar Munis

Abstract excerpt

Kabuki syndrome is a rare disorder characterized by growth retardation, distinctive craniofacial features, intellectual disability, and congenital anomalies that can affect various systems. Disease-causing variants in KMT2D and KDM6A, two genes that regulate transcription via histone modifications, are responsible for most of the cases. We retrospectively reviewed the medical records and molecular studies of...

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Identifiers

PMID: 42104006
DOI: 10.1007/s10048-026-00906-2

Genes

KMT2D
KDM6A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review.PMID 42104006Read ↗

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

Case Report: Pre- and post-natal evolution of Kabuki Syndrome due to a novel genetic mutationSemantic proximity Read ↗

Unmasking the challenges of Kabuki syndrome in adulthood: A case series.Semantic proximity Read ↗

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