%0 Journal Article
%T Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants
%A Ada J. S. Chan
%A Anne Ritzema
%A Cheryl Cytrynbaum
%A Irene Drmic
%A Mehdi Zarrei
%A Mohammed Uddin
%A Ny Hoang
%A Patricia M. Ambrozewicz
%A Rosanna Weksberg
%A Russell Schachar
%A Ryan K. C. Yuen
%A Stephen W. Scherer
%A Susan Walker
%J Archive of "NPJ Genomic Medicine".
%D 2019
%R 10.1038/s41525-019-0083-x
%X Facial features of six novel patients with de novo LoF or missense variants in KMT2A. a Patient 1 at 10 years; b patient 2 at 9 years; c patient 3 at 13 years; d Patient 4 at 25 years; e patient 5 at 5 years; f patient 6 at 1 year of age. Characteristic facial features noted in these patients include: thick and/or high arched eyebrows, long eyelashes, hypertelorism, downslanting palpebral fissures and a broad nasal tip. Written consent was obtained from all patients for open access publication of the photographs. LoF: loss-of-functio
%K Autism spectrum disorders
%K Disease genetics
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486600/