Phenotypic spectrum of CHARGE syndrome based on clinical characteristics


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

TURKISH JOURNAL OF MEDICAL SCIENCES, vol.48, no.5, pp.911-915, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 48 Issue: 5
  • Publication Date: 2018
  • Doi Number: 10.3906/sag-1611-107
  • Journal Name: TURKISH JOURNAL OF MEDICAL SCIENCES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.911-915
  • Keywords: Choanal atresia, coloboma, CHD7 gene, semicircular canal hypoplasia, ANOMALIES
  • Dokuz Eylül University Affiliated: Yes

Abstract

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.