A novel ALMS1 homozygous mutation in two Turkish brothers with Alstrom syndrome


Laxer C., Rahman S. A. , Sherif M., Tahir S., Cayir A., Demirbilek H. , ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.29, no.5, pp.585-589, 2016 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 5
  • Publication Date: 2016
  • Doi Number: 10.1515/jpem-2015-0249
  • Title of Journal : JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Page Numbers: pp.585-589

Abstract

Background: Alstrom syndrome (AS) is an extremely rare, autosomal recessive disorder characterised by multi-organ features that typically manifest within the first two decades of life. AS is caused by mutations in the Alstrom syndrome 1 (ALMS1) gene located at 2p13.1.