A large Turkish pedigree with multiple endocrine neoplasia type 1 syndrome carrying a rare mutation: c.1680_1683 del TGAG


Demirtaş C. Ö. , Ata P. , Çetin A. , Turkyilmaz A., Duman D.

TURKISH JOURNAL OF GASTROENTEROLOGY, cilt.31, ss.508-514, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31
  • Basım Tarihi: 2020
  • Doi Numarası: 10.5152/tjg.2020.19830
  • Dergi Adı: TURKISH JOURNAL OF GASTROENTEROLOGY
  • Sayfa Sayıları: ss.508-514

Özet

Background/Aims: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome characterized by tumors arising from endocrine glands with no specific genotype-phenotype correlation. Here, we report the largest Turkish kindred with MEN1 syndrome which inherited a scarce MEN1 mutation gene.