The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia

Keyphrases

• Ribonuclease 100%
• Homozygous mutation 100%
• Skeletal Changes 100%
• Anauxetic Dysplasia 100%
• Mitochondrial RNA Processing 60%
• Severe Short Stature 40%
• Short Stature 20%
• Ribosomal RNA 20%
• Core Protein 20%
• Ribonuclease P 20%
• Clinical Phenotype 20%
• RNase P 20%
• Peripheral Lymphocytes 20%
• Dysplastic Changes 20%
• Ribonucleoprotein Complex 20%
• Skeletal Disorders 20%
• Protein Components 20%
• Pathophysiological Basis 20%
• Skeletal Dysplasia 20%
• Mild Phenotype 20%
• Enzymatic Complex 20%
• Familial Cases 20%
• Metaphyseal 20%
• Spondyloepiphyseal Dysplasia 20%
• Ribosomal Biogenesis 20%

Biochemistry, Genetics and Molecular Biology

• Precursor 100%
• RNA 100%
• Dysplasia 100%
• Ribonuclease 45%
• RNA Processing 27%
• Body Height 27%
• Mitochondrial RNA 27%
• RNase P 18%
• Biogenesis 9%
• Ribonucleoprotein 9%
• Peripheral Blood Lymphocyte 9%
• Ribosomal RNA 9%

Immunology and Microbiology

• Precursor 100%
• Body Height 37%
• RNA Processing 37%
• Biogenesis 12%
• Peripheral Blood Lymphocyte 12%