Molecular diagnosis is important to confirm suspected pseudoachondroplasia.
Newman
B
B
Donnah
D
D
Briggs
M D
MD
D000015:Abnormalities, Multiple / Q000235:genetics*; D000130:Achondroplasia / Q000175:diagnosis* / Q000235:genetics*; D000328:Adult; D019943:Amino Acid Substitution; D002356:Cartilage / Q000378:metabolism; D064236:Cartilage Oligomeric Matrix Protein; D002675:Child, Preschool; D005091:Exons; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D064235:Matrilin Proteins; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics*; D017384:Sequence Deletion
D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human