A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis

Keyphrases

• Heterozygous Deletion 100%
• EVC2 Gene 100%
• Acrofacial Dysostosis 100%
• EVC2 80%
• Autosomal Recessive 20%
• Short Stature 20%
• Autosomal Dominant 20%
• Heterogeneous Conditions 20%
• Conclusive Evidence 20%
• Severe Phenotype 20%
• Autosomal Dominant Disorder 20%
• Nail Dystrophy 20%
• Preaxial Polydactyly 20%
• Ellis-van Creveld Syndrome 20%
• Malformation Syndrome 20%
• Chinese Families 20%

Medicine and Dentistry

• Dysostosis 100%
• Autosomal Recessive Disorder 20%
• Short Stature 20%
• Autosomal Dominant Inheritance 20%
• Polydactyly 20%
• Malformation Syndrome 20%
• Autosomal Dominant Disorder 20%
• Nail Dystrophy 20%
• Ellis-Van Creveld Syndrome 20%

Biochemistry, Genetics and Molecular Biology

• Autosomal Dominant Inheritance 100%
• Autosomal Recessive Disorder 50%
• Body Height 50%