Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula.
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ABSTRACT:
SUBMITTER: Hossain MA
PROVIDER: S-EPMC5444338 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
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Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula.
Hossain Mohammad Arif MA Obaid Abdulrahman A Rifai Mohammad M Alem Hala H Hazwani Tarek T Al Shehri Ali A Alfadhel Majid M Eto Yoshikatsu Y Eyaid Wafaa W
Human genome variation 20170525
Fazio-Londe syndrome is a rare neurological disorder presenting with sensorineural deafness, bulbar palsy and respiratory compromise that is caused by mutation in the <i>SLC52A3</i> 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. ...[more]
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