article_metadata: Pratibha Nair Abdul Rezzak Hamzeh Madiha Mohamed Nafisa Tawfiq Mahmoud Taleb Al-Ali Fatma Bastaki
article_metadata: 10.1159/000449225
article_metadata: Med Princ Pract
article_metadata: 2016;25(6):580-582.
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/27544240/
article_metadata: Mutation / genetics Spinocerebellar Degenerations / genetics
article_metadata: Mutation / genetics Spinocerebellar Degenerations / genetics Case Reports 5' Untranslated Regions / genetics Brain / pathology Child Consanguinity Humans Male Polymerase Chain Reaction Sequence Analysis United Arab Emirates 5' Untranslated Regions
article_metadata: PMC5588509
article_metadata: 27544240
article_metadata: Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5' Untranslated Region
article_metadata: 2016