Fazio-Londe syndrome is a rare neurological disorder presenting with sensorineural deafness, bulbar palsy and respiratory compromise that is caused by mutation in the gene, which encodes the intestinal (hRFT2) riboflavin transporter. We report a patient with early onset of Fazio-Londe syndrome as the first case report in Saudi Arabia with rapid regression to death at 24 months of age.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444338 | PMC |
http://dx.doi.org/10.1038/hgv.2017.18 | DOI Listing |
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