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

Fazio-Londe syndrome is a rare neurological disorder presenting with sensorineural deafness, bulbar palsy and respiratory compromise that is caused by mutation in the SLC52A3 gene, which encodes the intestinal (hRFT2) riboflavin transporter. We report a patient with early onset of Fazio-Londe syndro...

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Dades bibliogràfiques
Publicat a:Hum Genome Var
Autors principals: Hossain, Mohammad Arif, Obaid, Abdulrahman, Rifai, Mohammad, Alem, Hala, Hazwani, Tarek, Al Shehri, Ali, Alfadhel, Majid, Eto, Yoshikatsu, Eyaid, Wafaa
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2017
Matèries:
Data Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5444338/
https://ncbi.nlm.nih.gov/pubmed/28580161
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.18
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