PSACH and the largest proportion of autosomal dominant MED (AD-MED) results from mutations in cartilage oligomeric matrix protein (COMP); however, AD-MED is genetically heterogenous and can also result from mutations in matrilin-3 (MATN3) and type IX collagen (COL9A1, COL9A2, and COL9A3)...
recessive multiple epiphyseal dysplasia; COMP gene Abstract A multilayered patella is a characteristic radiographic finding of recessive multiple epiphyseal dysplasia (rMED) caused by DTDST mutations. However it has been recently reported in a dominant MED case with a COL9A2 mutation. We report on ...
Wynne-Davies R, Hall CM, Young ID (1986) Pseudoachon- droplasia: clinical diagnosis at different ages and compari- son of autosomal dominant and recessive types: a review of 32 patients (26 kindreds). J Med Genet 23:425-434Wynne-Davies R , Hall CM , Young ID ( 1986 ) Pseudo...