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MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
Am J Med Genet A. 2014 May;164A(5):1175-9. doi: 10.1002/ajmg.a.36431. Epub 2014 Mar 19.
Am J Med Genet A. 2014.
PMID: 24648384
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.
Lausch E, Keppler R, Hilbert K, Cormier-Daire V, Nikkel S, Nishimura G, Unger S, Spranger J, Superti-Furga A, Zabel B.
Lausch E, et al.
Am J Hum Genet. 2009 Aug;85(2):168-78. doi: 10.1016/j.ajhg.2009.06.014. Epub 2009 Jul 16.
Am J Hum Genet. 2009.
PMID: 19615667
Free PMC article.
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