Phenotypic Variability in Patients with Fanconi–Bickel Syndrome with Identical Mutations

Elena Fridman,Avraham Zeharia,Tal Markus-Eidlitz,Yishai Haimi Cohen

Phenotypic Variability in Patients with Fanconi–Bickel Syndrome with Identical Mutations

2014

Elena Fridman
Avraham Zeharia
Tal Markus-Eidlitz
Yishai Haimi Cohen

Objective: To describe the phenotypic features of an ethnically homogenous group of patients with Fanconi–Bickel syndrome harboring the p.R310X mutation.

Keywords:

Fanconi-Bickel syndrome
Phenotype
Pediatric intensive care unit
Metabolic acidosis
Pediatrics
Bioinformatics
Mutation
Medicine
in patient

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