Phenotypic variability in patients with fanconi–bickel syndrome with identical mutations

Keyphrases

• Disease Severity 100%
• Phenotypic Variation 100%
• Hospitalization 33%
• Environmental Factors 33%
• Bedouin 33%
• Clinical picture 33%
• Tertiary Care Hospital 33%
• Imaging Findings 33%
• Phenotypic Characteristics 33%
• Medical Files 33%
• Genetic Elements 33%
• Replacement Therapy 33%
• Growth Pattern 33%
• Treatment Regimen 33%
• Dolls 33%
• Short Stature 33%
• Nutritional Factors 33%
• Modifier Genes 33%
• Homogeneous Groups 33%
• Disease Spectrum 33%
• Epigenetic Factors 33%
• Renal Complications 33%
• Biochemical Abnormalities 33%
• Disease Exacerbation 33%
• Complications of Therapy 33%
• Failure to Thrive 33%
• Skeletal Complications 33%
• Electrolyte Replacement 33%

Biochemistry, Genetics and Molecular Biology

• Genetics 100%
• Epigenetics 100%
• Body Height 100%
• Modifier Gene 100%

Medicine and Dentistry

• Disease Severity 100%
• Hepatomegaly 33%
• Physical Disease by Body Function 33%
• Substitution Therapy 33%
• Disease Exacerbation 33%
• Short Stature 33%
• Facies 33%
• Failure to Thrive 33%
• Modifier Gene 33%
• Electrolyte Solution 33%