Associated Papers
Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions.
Araji S et al.
Clinical Genetics, 2026
Case Report: Area of focus clinical presentation and KMT2D gene mutation at the c.15535C>T site in a case of Kabuki syndrome.
Li W et al.
Frontiers in Genetics, 2025
Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study.
Yasuda T et al.
Cancer Science, 2020
32619037 (PubMed )
Supplement: CAS-111-3367-s004.xlsx › Sup.Table4
Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.
Shangguan H et al.
Orphanet Journal of Rare Diseases, 2019
Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.
Xin C et al.
Bmc Medical Genetics, 2018
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