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Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series.

Nattaporn TassanakijpanichForrest J McKenzieYingratana A McLennanElisabeth MakhoulFlora TassoneMittal J JasoliyaChristopher RomneyIgnacio Cortina PetrasicKaye NapalingaCaroline B BuchananPaul HagermanRandi HagermanEmily L Casanova
Published in: Journal of medical genetics (2021)
Both hEDS phenotype and premutation involvement may co-occur because of related commonalities in pathogenesis.
Keyphrases
  • case report