Title

Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome.

Document Type

Article

Publication Date

2013

Keywords

Adolescent, Alstrom Syndrome, Echocardiography, Humans, Male, Mutation, Pathology, Molecular, Proteins

JAX Source

Clin Genet 2013; 83:96-98.

PMID

22533542

Abstract

Clin Genet 2013; 83:96-98.