Since c-MAF plays important roles in lens, bone, liver, and kidney formation, and patients with c-MAF mutations show many disorders, such as congenital cataracts, deafness, skeletal dysplasia, dental abnormalities, epilepsy, mental retardation, calcifications of the bilateral putamen nucleus, pericardial effusion, exostosis of the distal phalanx, and femoral neck fracture [21,22,23,24,25], it was considered that MAFB mutations also cause various diseases. The gene discussed is MAF; the disease is skeletal dysplasia.