Title: | Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54 |
Journal : | American journal of human genetics (The), 86, 3 |
Authors: | Green P ; Wiseman M ; Crow YJ ; Houlden H ; Riphagen S ; Lin JP ; Raymond FL ; Childs AM ; Sheridan E ; Edwards S ; Josifova DJ |
Material Type: | Article |
Publication Date: | 2010 |
Size: | p. 485-489 |
Languages: | English |
Keywords : | age of disease onset ; candidate genes ; case studies ; clinical presentation ; consanguinity ; deafness ; déficit en transporteur de riboflavine ; genetic mutations ; nucleotide sequences |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=20206331 |
Pubmed / DOI : | DOI : 10.1016/j.ajhg.2010.02.006 |