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Article

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

Balkan medical journal - 2 Feb 2026

Manav Yiğit Zehra, Mengübaş Erbaş Aydan, Türkyılmaz Ayberk, Tekin İsmihan Merve, Yılmaz Güleç Elif, Kayhan Gülsüm, Aydın Gümüş Aydeniz, Arslan Ateş Esra, Üçtepe Eyyüp, Ateş Kübra, Kazancıoğlu Elvin, Uyanık Bülent, Çetin Sena, Acır Sahra, Sobu Elif, Kamer İbrahim, Yeşilyurt Ahmet, Çebi Alperhan, Anık Ahmet, Ayanoğlu Müge, Ünsel Bolat Gül, Bozkurt Gökay, Bolat Hilmi

Abstract excerpt

Background: Wiedemann-Steiner syndrome (WDSTS) is a rare autosomal dominant neurodevelopmental disorder caused by heterozygous pathogenic variants in KMT2A. Although several large international cohorts have helped define its broad clinical spectrum, data from underrepresented populations remain limited. Aims: To characterize the molecular and phenotypic spectrum of Turkish patients with WDSTS and compare these...

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Histone-Lysine N-Methyltransferase

Myeloid-Lymphoid Leukemia Protein

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Identifiers

PMID: 41320952
DOI: 10.4274/balkanmedj.galenos.2025.2025-9-81
PMCID: PMC12862164

Genes

KMT2A

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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