Steel D, Salpietro V, Phadke R, Pitt M, Gentile G, Massoud A, Batten L, Bashamboo A, Mcelreavey K, Saggar A, Kinali M. Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome. J Genet. 2015 Dec;94(4):755–8. doi: 10.1007/s12041-015-0578-x. PMID: 26690532.
Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without ‘hairy elbows’: expanding the phenotype of Wiedemann–Steiner syndrome