Title: | LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues |
Journal : | Clinical genetics, 88, 6 |
Authors: | Warman-Chardon J ; Smith AC ; Woulfe J ; Pena E ; Rakhra K ; Dennie C ; Beaulieu C ; Huang L ; Schwartzentruber J ; Hawkins C ; Harms MB ; Dojeiji S ; Zhang M ; FORGE Canada Consortium ; Majewski J ; Bulman DE ; Boycott KM ; Dyment DA |
Material Type: | Article |
Publication Date: | 2015 |
Size: | p 558 |
Languages: | English |
Keywords : | cardiac features ; cardiomyopathy ; case studies ; LIMS2 gene ; LIMS2-related limb-girdle muscular dystrophy ; macroglossia ; sequencing ; tongue |
Keywords: | LIMS2;cardiomyopathy;exome sequencing;limb girdle muscular dystrophy; |
Pubmed / DOI : | DOI : 10.1111/cge.12561 / Pubmed : 25589244 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/25589244 |
See also : |