Associated Papers
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Cuvertino S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31949313 (PubMed )
Supplement: 41436_2019_743_MOESM1_ESM.docx
Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.
Roessler E et al.
Human Genetics, 2009
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