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

Authors

S Taşdemir
A Güzel-Ozantürk
Jan D. Marshall, The Jackson LaboratoryFollow
Gayle B. CollinFollow
R K Ozgül
N Narin
M Dündar
Juergen K. NaggertFollow

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.

ISSN

1399-0004

PMID

22533542

Abstract

Clin Genet 2013; 83:96-98.

Recommended Citation

Taşdemir S, Güzel-Ozantürk A, Marshall JD, Collin GB, Ozgül R, Narin N, Dündar M, Naggert JK. Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome. Clin Genet 2013; 83:96-98.