4.5 Review

Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature

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Novel heterozygous variants in KMT2D associated with holoprosencephaly

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A novel KMT2D mutation resulting in Kabuki syndrome: A case report

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Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

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AMERICAN JOURNAL OF HUMAN GENETICS (2012)

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A mutation screen in patients with Kabuki syndrome

Yun Li et al.

HUMAN GENETICS (2011)