Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β-catenin

Medicine & Life Sciences

• 46,XY Gonadal Dysgenesis 100%
• Filamins 88%
• Catenins 75%
• Mutation 33%
• MAP Kinase Kinase Kinase 1 12%
• Gain of Function Mutation 9%
• Whole Exome Sequencing 8%
• Sertoli Cells 8%
• Loss of Function Mutation 8%
• Osteogenesis 6%
• Signal Transduction 5%
• Phosphotransferases 5%
• Transcription Factors 5%
• Proteins 5%
• RNA 5%
• Phosphorylation 5%
• Polymerase Chain Reaction 4%
• Genes 3%