Five novel ALMS1 gene mutations in six patients with Alstrom syndrome

Kilinc S., Yucel-Yilmaz D., Ardagil A., Apaydin S., Valverde D., ÖZGÜL R. K., ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.31, no.6, pp.681-687, 2018 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 31 Issue: 6
  • Publication Date: 2018
  • Doi Number: 10.1515/jpem-2017-0418
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.681-687
  • Keywords: ALMS1 gene, Alstrom syndrome, cirrhosis, cone-rod dystrophy, gallstones, obesity, type 2 diabetes mellitus, PHENOTYPE, DEGENERATION, VARIABILITY
  • Hacettepe University Affiliated: Yes

Abstract

Background: Alstrom syndrome is a rare autosomal recessive inherited disorder caused by mutations in the ALMS1 gene.