The Fraxopathies: Definition, overview, and update

Elisabetta Tabolacci, Giovanni Neri, Filomena Pirozzi

Risultato della ricerca: Contributo in rivistaArticolo in rivista

35 Citazioni (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
Lingua originaleEnglish
pagine (da-a)1803-1816
Numero di pagine14
RivistaAmerican Journal of Medical Genetics
Volume2011
Stato di pubblicazionePubblicato - 2011

Keywords

  • Fraxopathies

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