Konu "autosomal dominant inheritance" için Tıp Fakültesi / Faculty of Medicine listeleme

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    • Familial 22q11.2 deletion syndrome with autosomal dominant inheritance 

      Gokturk, Bahar; Gokdemir, Mahmut; Reisli, Ismail; Yildirim, Mahmut Selman (2016)
      22q11.2 deletion syndrome is the most frequent microdeletion syndrome in humans and caused by hemizygote deletion on only one chromosome. Most of probands have a de novo deletion of 22q11.2, but 8-20% have inherited the ...