rhizomelic chondrodysplasia punctata type 1
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
Mutational spectrum in the <span class="gene" id="11781871-0-27-31">PEX7</span> gene and functional analysis of mutant alleles in 78 patients with <span class="disease" id="11781871-0-99-142">rhizomelic chondrodysplasia punctata type 1</span>.