Characteristics of study subjects in MO family.

<p>Characteristics of study subjects in MO family.</p

Identification of a frameshift mutation in codon 486 of <i>EXT1</i> gene.

<p>(a) Sanger sequencing detected the inserted base in the <i>EXT1</i> gene of all affected subjects. Red arrowhead denotes the mutation position; (b) intron-exon structure of <i>EXT1</i> gene. Mutated exon is indicated by red arrowhead; (c) comparison of the functional domains of EXT1 proteins encoded by mutated and normal <i>EXT1</i> genes; (d) multiple sequence alignment of codon 485 to codon 487. Codon 486 is highly conserved across various vertebrates.</p

Immunohistochemisty screening of chondrocytes with functional EXT1 in the superficial layers of cartilage caps of MO(a) and extragenetic solitary chondroma(b) (40×).

<p>The chondrocytes with functional EXT1 in MO are less than those in extragenetic solitary chondroma.</p