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

MeSH terms

• Exome / genetics*
• Female
• Genetic Diseases, Inborn / genetics*
• Growth Disorders / genetics*
• Histone-Lysine N-Methyltransferase / genetics*
• Humans
• Hypertrichosis / congenital*
• Hypertrichosis / genetics
• Infant
• Mutation / genetics*
• Myeloid-Lymphoid Leukemia Protein / genetics*
• Phenotype