title: 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.
authors.affiliation: Department of Paediatrics, Chelsea and Westminster NHS Foundation Trust, London SW10 9NH, United Kingdom. m.kinali@imperial.ac.uk.
authors.forename: Dora
authors.initials: D
authors.lastname: Steel
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Salpietro
authors.forename: Rahul
authors.initials: R
authors.lastname: Phadke
authors.forename: Matthew
authors.initials: M
authors.lastname: Pitt
authors.forename: Giulia
authors.initials: G
authors.lastname: Gentile
authors.forename: Ahmed
authors.initials: A
authors.lastname: Massoud
authors.forename: Leigh
authors.initials: L
authors.lastname: Batten
authors.forename: Anu
authors.initials: A
authors.lastname: Bashamboo
authors.forename: Ken
authors.initials: K
authors.lastname: Mcelreavey
authors.forename: Anand
authors.initials: A
authors.lastname: Saggar
authors.forename: Maria
authors.initials: M
authors.lastname: Kinali
mesh_terms: D059472:Exome / Q000235:genetics*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics*; D011495:Histone-Lysine N-Methyltransferase / Q000235:genetics*; D006801:Humans; D006983:Hypertrichosis / Q000151:congenital* / Q000235:genetics; D007223:Infant; D009154:Mutation / Q000235:genetics*; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics*; D010641:Phenotype
chemical_list: C497422:KMT2A protein, human; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase