EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

Alstrom Syndrome: Genetics and Clinical Overview

(2012) Jan D. Marshall et al.   CURRENT GENOMICS

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

(2012) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Wolfram syndrome: a clinicopathologic correlation

(2009) Justin B. Hilson et al.   ACTA NEUROPATHOLOGICA

Alström Syndrome and Cecal Volvulus in 2 Siblings

(2009) Eric Y.H. Khoo et al.   AMERICAN JOURNAL OF THE MEDICAL SCIENCES

New insights and therapies for the metabolic consequences of Alström syndrome

(2009) Richard Bayley Paisey   CURRENT OPINION IN LIPIDOLOGY

Cardiac magnetic resonance imaging in Alstrom syndrome

(2009) Margaret A Loudon et al.   Orphanet Journal of Rare Diseases