Title: | Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula |
Journal : | Human genome variation, 4 |
Authors: | Hossain MA, Author ; Obaid A ; Rifai M ; Alem H ; Hazwani T ; Al Shehri A ; Alfadhel M ; Eto Y ; Eyaid W |
Material Type: | Article |
Publication Date: | 2017 |
Languages: | English |
Keywords : | case studies ; clinical presentation ; consanguinity ; déficit en transporteur de riboflavine ; gène SLC52A3 ; genetic mutations ; Saudi Arabia |
Pubmed / DOI : | Pubmed : 28580161 / DOI : 10.1038/hgv.2017.18 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28580161 |