Tejada, Marķa-Isabel

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