A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3. [electronic resource]
- Pediatrics Oct 2011
- e1029-33 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1098-4275
10.1542/peds.2010-0388 doi
Child Chromosomes, Human, X--genetics Gene Duplication Humans Immunoblotting In Situ Hybridization, Fluorescence Male X-Linked Intellectual Disability--diagnosis Oligonucleotide Array Sequence Analysis Pedigree Polymerase Chain Reaction Ribosomal Protein S6 Kinases, 90-kDa--genetics Sex Chromosome Aberrations