Article
Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability.
Journal of thrombosis and haemostasis : JTH - 1 Oct 2016
Jourdy Y, Chatron N, Carage M-L, Fretigny M, Meunier S, Zawadzki C, Gay V, Negrier C, Sanlaville D, Vinciguerra C
Abstract excerpt
Essentials Some hemophilia B (HB) patients with complete F9 deletion present with intellectual disability (ID). We delineate six F9 complete deletions and investigate genotype/phenotype correlation. We identify SOX3 as a candidate gene for ID, acting through haploinsufficiency, in HB patients. All complete F9 deletions in ID patients should be explored with cytogenetic microarrays. SUMMARY: Background Large...
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