Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing

Keyphrases

• Exome Sequencing 100%
• Matrix Metalloproteinases 100%
• Homozygous mutation 100%
• Metaphyseal Anadysplasia 100%
• Fetus 40%
• Long Bone 40%
• Jewish 20%
• Severe Disease 20%
• Phenotypic Spectrum 20%
• Sonographic 20%
• Founder mutation 20%
• Early Postnatal 20%
• Whole Exome Sequencing 20%
• Autosomal Recessive 20%
• Autosomal Recessive Inheritance 20%
• Associated Findings 20%
• Consanguineous Family 20%
• Consanguineous Parents 20%
• Skeletal Dysplasia 20%
• Non-consanguineous 20%
• Caucasus 20%
• Lethal Skeletal Dysplasia 20%
• Metaphyseal 20%
• Bone Shortening 20%
• Bowing 20%
• Length at Birth 20%
• Normal Length 20%

Biochemistry, Genetics and Molecular Biology

• Exome Sequencing 100%
• Matrix Metalloproteinase 100%
• Dysplasia 50%
• Autosomal Recessive Inheritance 25%
• Autosomal Dominant Inheritance 25%