Phenotypic spectrum of CHARGE syndrome based on clinical characteristics

Kilicarslan O. A., Ataman E., Gursoy S., Hazan F., Randa C., ÇANKAYA T., ...Daha Fazla

TURKISH JOURNAL OF MEDICAL SCIENCES, cilt.48, sa.5, ss.911-915, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 48 Sayı: 5
  • Basım Tarihi: 2018
  • Doi Numarası: 10.3906/sag-1611-107
  • Dergi Adı: TURKISH JOURNAL OF MEDICAL SCIENCES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.911-915
  • Anahtar Kelimeler: Choanal atresia, coloboma, CHD7 gene, semicircular canal hypoplasia, ANOMALIES
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Background/aim: CHARGE syndrome is a rare autosomal dominant disease with multiple congenital anomalies and cognitive impairment, which is caused by mutations in the CHD7 gene. This study aimed to disclose the mild end of the phenotypic spectrum of CHARGE syndrome, which has a highly variable expressivity.