Browsing Centre for Genomics and Child Health by Author "Faundes, V"
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A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
Cuvertino, S; Hartill, V; Colyer, A; Garner, T; Nair, N; Al-Gazali, L; Canham, N; Faundes, V; Flinter, F; Hertecant, J (Springer Nature, 2020-01-17)Purpose: To investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition distinct from Kabuki syndrome type 1 (KS1). Methods: Multiple individuals, with MVs in exons 38 or 39 of KMT2D that ...