Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31

BAYRİ Y., SÖYLEMEZ B., Seker A., Yuksel S., TANRIKULU B., ÜNVER O., ...Daha Fazla

CHILDS NERVOUS SYSTEM, cilt.31, sa.8, ss.1367-1370, 2015 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 8
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1007/s00381-015-2753-z
  • Dergi Adı: CHILDS NERVOUS SYSTEM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1367-1370
  • Anahtar Kelimeler: Meningomyelocele, Neural tube defects, Whole genome linkage analysis, Chromosome, LOD score, IDENTIFICATION, GENETICS
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet

Özet

Meningomyelocele is one of the most common and socioeconomically, psychologically, and physically debilitating neurodevelopmental diseases. A few chromosomal locus and genes have been identified as responsible for the disease; however, clear evidence still needs to be produced. This study aimed to show evidence of a strong genetic linkage in a novel chromosomal locus in a family with this neural tube defect.