A retrospective overview in female patients prediagnosed with FMR1 associated disorders

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Araci D. G., Peker A., Altiok Clark Ö., Manguoğlu A. E., Özekinci M., Uysal H., ...Daha Fazla

European Human Genetics Conference 2022, Vienna, Avusturya, 10 - 14 Haziran 2022, ss.1111, (Özet Bildiri)

  • Yayın Türü: Bildiri / Özet Bildiri
  • Basıldığı Şehir: Vienna
  • Basıldığı Ülke: Avusturya
  • Sayfa Sayıları: ss.1111
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Repetitions of trinucleotide “CGG” in FMR1 gene account for diseases such as Fragile-X syndrome

(FXS), Fragile-X Tremor Ataxia Syndrome (FXTAS), Fragile-X associated primary ovarian insufficiency

(FXPOI) & diminished ovarian reserve(FXDOR), intellectual disability, subfertility or infertility. In this

study, we aim to make retrospective reviews on FMR1 mutation in female patients forwarded to our

clinic for genetic analysis between 2014 & 2021.