De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Douglas G, Cho MT, Telegrafi A, Winter S, Carmichael J, Zackai EH, Deardorff MA, Harr M, Williams L, Psychogios A, Erwin AL, Grebe T, Retterer K, Juusola J.
Douglas G, et al.
Am J Med Genet A. 2018 Sep;176(9):1845-1851. doi: 10.1002/ajmg.a.40368. Epub 2018 Jul 28.
Am J Med Genet A. 2018.
PMID: 30055086
Non-specific dysmorphic features were noted in some patients, including broad forehead with high anterior hairline, arched eyebrows, thin or tented upper lip, and short philtrum. ...Clinical whole exome sequencing (WES) performed at our clinical molecular diagnostic labora …
Non-specific dysmorphic features were noted in some patients, including broad forehead with high anterior hairline, arched eyebrows, …