Header Logo

MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.

Bonaf? L, Liang J, Gorna MW, Zhang Q, Ha-Vinh R, Campos-Xavier AB, Unger S, Beckmann JS, Le B?chec A, Stevenson B, Giedion A, Liu X, Superti-Furga G, Wang W, Spahr A, Superti-Furga A. MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type. Am J Med Genet A. 2014 May; 164A(5):1175-9.

View in: PubMed