Article
Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series.
Journal of medical genetics - 1 Jul 2022
Tassanakijpanich Nattaporn, McKenzie Forrest J, McLennan Yingratana A, Makhoul Elisabeth, Tassone Flora, Jasoliya Mittal J, Romney Christopher, Petrasic Ignacio Cortina, Napalinga Kaye, Buchanan Caroline B, Hagerman Paul, Hagerman Randi, Casanova Emily L
Abstract excerpt
BACKGROUND: While an association between full mutation CGG-repeat expansions of the Fragile X Mental Retardation 1 (FMR1) gene and connective tissue problems are clearly described, problems in fragile X premutation carriers (fXPCs) CGG-repeat range (55-200 repeats) of the FMR1 gene may be overlooked. OBJECTIVE: To report five FMR1 fXPCs cases with the hypermobile Ehlers-Danlos syndrome (hEDS) phenotype. METHODS:...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.