The FRAXopathies: Definition, overview, and update

Elisabetta Tabolacci, Giovanni Neri, Filomena Pirozzi

Risultato della ricerca: Contributo in rivistaArticolo in rivista

Abstract

The fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency are conditions related tot he X chromosome folate-sensitive site FRAXA. Threfore, we propose that they are considered as a family of disorders under the general designation of FRAXopathies. The present reviwe 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. PART A
Volume2011
Stato di pubblicazionePubblicato - 2011

Keywords

  • FXTAS

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