Author:
Quoraishi Sadik,Mason Gemma,Geberhiwot Tarekegn,Dalton Claudia Lucy
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Neurology (clinical),Sensory Systems,Otorhinolaryngology
Reference31 articles.
1. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree;Acta Psychiatr Neurol Scand Suppl,1959
2. Consensus clinical management guidelines for Alström syndrome;Orphanet J Rare Dis,2020
3. Rare disorders presenting in the diabetic clinic: an example using audit of the NSCT adult Alström clinics;Pract Diabetes,2011
4. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome;Nat Genet,2002
5. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome;Nat Genet,2002