The Fraxopathies: Definition, overview, and update

Elisabetta Tabolacci, Giovanni Neri, Filomena Pirozzi

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

tHE FRAGILE x SYNDROME, FRAGILE X TREMOR ARTAXIA SYNDROME, AND PREMATURE OVARIAN INSUFFICIENCY ARE CONDITIONS RELATED TO THE X CHROMOSOME FOLATE-SENSITIVE FRAGILE SITE FRAXA. THEREFORE, WE PROPOSE THAT THEY ARE CONSIDRED AS A FAMILY OF DISORDERS UNDER THE GENERAL DESIGNATION OF FRAXOPATHIES. THE PRESENT REVIEW WILL OUTLINE THE MAIN CLINICAL AND MOLECULAR FEATURES OF THESE DISORDERS, WITH SPECIAL EMPHASIS ON THE PATHOGENIC MECHANISMS THAT LEAD TO DISTINCT PHENOTYPES, STARTING FROM RELATED MUTATIONS. THE UNDERSTANDING OF THESE MECHANISMS IS ALREADY GENERATING PROMISING THERAPEUTIC APPROACHES
Original languageEnglish
Pages (from-to)1803-1816
Number of pages14
JournalAmerican Journal of Medical Genetics
Volume2011
Publication statusPublished - 2011

Keywords

  • Fraxopathies

Fingerprint Dive into the research topics of 'The Fraxopathies: Definition, overview, and update'. Together they form a unique fingerprint.

Cite this