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 (SCI-Expanded, Scopus)

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.