JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.29, no.5, pp.585-589, 2016 (Journal Indexed in SCI)
Article / Article
Title of Journal :
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
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.