Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis.
Molecular Genetics & Genomic Medicine
Mason, Jane A JA; Aung, Hnin T HT; Nandini, Adayapalam A; Woods, Rickie G RG; Fairbairn, David J DJ; Rowell, John A JA; Young, David D; Susman, Rachel D RD; Brown, Simon A SA; Hyland, Valentine J VJ; Robertson, Jeremy D JD