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Skeletal development is severely impaired leading to reduced snout and body length, and extremely short limbs. The proliferating zone of epiphyseal cartilage is disorganized with densely packed round chondrocytes and little extracellular matrix, in contrast to the regular columnar organization of chondrocytes in wild type cartilage. Chondroitin sulfate content of cartilage is significantly reduced, associated with reduced proteoglycan aggregates in the extracellular matrix"}],"commentType":"DISRUPTION PHENOTYPE"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the TPT transporter family. 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