Quick Reference

A protein (Dyggve–Melchior–Clausen syndrome protein, 669 aa) associated with the Golgi. Defects are associated with Dyggve–Melchior–Clausen syndrome and Smith–McCort dysplasia (SMC). SMC is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve–Melchior–Clausen syndrome

Subjects: Medicine and Health.

Reference entries