Associated Papers
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
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D et al.
Human Molecular Genetics, 2018
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).
Banka S et al.
Clinical Genetics, 2015
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