A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability

Keyphrases

• Missense mutation 100%
• HNF1A 100%
• Fetal Diseases 100%
• Autosomal Dominant 50%
• Severe Phenotype 50%
• Diabetes Syndrome 50%
• HNF1B Gene 50%
• Fetal Phenotype 50%
• MODY5 50%
• Renal Cyst 50%

Biochemistry, Genetics and Molecular Biology

• HNF1B 100%
• Missense Mutation 66%
• Autosomal Dominant Inheritance 33%