A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner Syndrome

American Journal of Medical Genetics, Part A

Volumn 167, Issue 9, 2015, Pages 2182-2187

  Dunkerton, Sophie ^a   Field, Matthew ^b   Cho, Vicki ^b   Bertram, Edward ^b   Whittle, Belinda ^b   Groves, Alexandra ^c   Goel, Himanshu ^a,c  

^a UNIVERSITY OF NEWCASTLE   (Australia)

^b Australian National University   (Australia)

^c The Australian National University ^*  (Australia)

Author keywords

De novo; Hypertrichosis cubiti; KMT2A; MLL; Monozygotic twins; SNP; Wiedemann Steiner syndrome

Indexed keywords

ADENOID; ARM MALFORMATION; ARTICLE; CASE REPORT; CEPHALHEMATOMA; CLEFT PALATE; CLINODACTYLY; COGNITION ASSESSMENT; CONDUCTION DEAFNESS; DE NOVO MUTATION; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GROWTH RETARDATION; HEMATOMA; HUMAN; HYPERNASALITY; HYPERTELORISM; HYPERTRICHOSIS; INTELLECTUAL IMPAIRMENT; KIDNEY MALFORMATION; KMT2A GENE; LEG MALFORMATION; MONOZYGOTIC TWINS; NOSE FEEDING; PALPEBRAL FISSURE; PATENT DUCTUS ARTERIOSUS; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; PSYCHOMOTOR DISORDER; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH DELAY; WEIGHT GAIN; WHOLE EXOME SEQUENCING; WIEDEMANN STEINER SYNDROME; CHILD; CONTRACTURE; EXOME; FACIES; GENETIC PREDISPOSITION; GENETICS; GROWTH DISORDER; HETEROZYGOTE; MICROCEPHALY; MULTIPLE MALFORMATION SYNDROME; SYNDROME; TWINS;

HISTONE LYSINE METHYLTRANSFERASE; MIXED LINEAGE LEUKEMIA PROTEIN; MLL PROTEIN, HUMAN;

ABNORMALITIES, MULTIPLE; CHILD; CONTRACTURE; DISEASES IN TWINS; EXOME; FACIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GROWTH DISORDERS; HETEROZYGOTE; HISTONE-LYSINE N-METHYLTRANSFERASE; HUMANS; INTELLECTUAL DISABILITY; MICROCEPHALY; MYELOID-LYMPHOID LEUKEMIA PROTEIN; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME; TWINS, MONOZYGOTIC;

EID: 84939464472     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37130     Document Type: Article

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