De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome - Jones, Wendy D.; Dafou, Dimitra; McEntagart, Meriel; Woollard, Wesley J.; Elmslie, Frances V.; Holder-Espinasse, Muriel; Irving, Melita; Saggar, Anand K.; Smithson, Sarah; Trembath, Richard C.; Deshpande, Charu; Simpson, Michael A. (American journal of human genetics, 2012)
Keywords: Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Base Sequence; Biological and medical sciences; Body height; Catalysis; Elbow; Enzymes; Exome - genetics; Fundamental and applied biological sciences. Psychology; Gene Components; Genetic disorders; Genetics of eukaryotes. Biological and molecular evolution; Genotype & phenotype; Growth Disorders - genetics; Growth Disorders - pathology; Hair; Haploinsufficiency - genetics; histone methyltransferase; Histone-Lysine N-Methyltransferase; Histones; Humans; Hypertrichosis - congenital; Hypertrichosis - genetics; Hypertrichosis - pathology; Medical genetics; Medical sciences; Mental disorders; Mental retardation; Methylation; MLL protein; Molecular and cellular biology; Molecular Sequence Data; Mutation; Mutation - genetics; Myeloid-Lymphoid Leukemia Protein - genetics; Proteins; Sequence Analysis, DNA; Transcription; Genetics; De novo; Mutation