Associated Papers
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Faundes V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies.
Sakaria RP et al.
Frontiers in Genetics, 2021
34899850 (PubMed )
Supplement: DataSheet4.PDF
Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.
Shangguan H et al.
Orphanet Journal of Rare Diseases, 2019
Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report.
Guo Z et al.
Bmc Medical Genetics, 2018
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