Lehman, A M

19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression. [electronic resource] - Clinical genetics Jan 2012 - 56-63 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1399-0004

10.1111/j.1399-0004.2010.01615.x doi


Adolescent
Adult
Aged
Alu Elements
Child
Child, Preschool
Chromosome Duplication
Chromosomes, Human, Pair 19--genetics
Craniofacial Abnormalities--genetics
DNA (Cytosine-5-)-Methyltransferase 1
DNA (Cytosine-5-)-Methyltransferases--genetics
DNA Methylation
DNA Mutational Analysis
Female
Gene Expression Regulation
Genome, Human
Humans
Infant
Learning Disabilities--genetics
Leukocytes, Mononuclear--cytology
Male
Middle Aged
Oligonucleotide Array Sequence Analysis
Pedigree
Phenotype
Sotos Syndrome--genetics