Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata

Medicine and Dentistry

• Rhizomelic Chondrodysplasia Punctata 100%
• Emopamil 100%
• Protein Binding 100%
• Penetrance 100%
• Limb 50%
• Scalp 50%
• Cataract 50%
• Skin Defect 50%
• Genetic Analysis 50%
• Short Stature 50%
• Epiphysis 50%
• Polydactyly 50%
• Congenital Ichthyosiform Erythroderma 50%
• CHILD Syndrome 50%

Biochemistry, Genetics and Molecular Biology

• Penetrance 100%
• Emopamil Binding Protein 100%
• X-Inactivation 50%
• Nonsense Mutation 50%
• Skewed X-Inactivation 50%
• Hydroxysteroid 50%