A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia

Figure 1

(a) Pedigree of a PSACH family with segregation analysis. The black symbols represent affected members, and arrows indicate the proband. Genotypes are identified by letters and a slash, with red representing mutations. (b–d) The phenotypes of the proband. The proband has congenital dysplasia of the hip (b, c) and scoliosis (d).

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