Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula.

Hum Genome Var

Department of Pediatrics, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Saudi Arabia.

Published: May 2017

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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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444338PMC
http://dx.doi.org/10.1038/hgv.2017.18DOI Listing

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