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

DEMİRTAŞ C. Ö., ATA P., Cetin A., Turkyilmaz A., Duman D. G.

TURKISH JOURNAL OF GASTROENTEROLOGY, cilt.31, sa.7, ss.508-514, 2020 (SCI-Expanded, Scopus, TRDizin) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 7
  • Basım Tarihi: 2020
  • Doi Numarası: 10.5152/tjg.2020.19830
  • Dergi Adı: TURKISH JOURNAL OF GASTROENTEROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.508-514
  • Karadeniz Teknik Üniversitesi Adresli: Hayır

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.