Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation

BACKGROUND: Fanconi-Bickel syndrome (FBS, OMIM 227810) is a rare autosomal recessive disease caused by a deficiency of glucose transporter 2 (GLUT2), a member of the facilitative glucose transporter family (Santer et al. J Inherit Metab Dis 21:191–194, 1998). The typical clinical picture is characte...

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Detalles Bibliográficos
Autores principales: Dweikat, Imad Mohammad, Alawneh, Issa Shaher, Bahar, Sami Fares, Sultan, Mutaz Idrees
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4973067/
https://www.ncbi.nlm.nih.gov/pubmed/27487919
http://dx.doi.org/10.1186/s13104-016-2184-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4973067/
https://www.ncbi.nlm.nih.gov/pubmed/27487919
http://dx.doi.org/10.1186/s13104-016-2184-2

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