Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg201476.pdf
Reference17 articles.
1. Lausch E, Keppler R, Hilbert K et al: Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. Am J Hum Genet 2009; 85: 168–178.
2. Nishimura G, Ikegawa S, Saga T, Nagai T, Aya M, Kawano T : Metaphyseal anadysplasia: evidence of genetic heterogeneity. Am J Med Genet 1999; 82: 43–48.
3. Wiedemann HR, Spranger J : Chondrodysplasia metaphysaria (dysostosis metaphysaria) – ein neur typ? Z Kinderheilk 1970; 108: 171–186.
4. Maroteaux P, Verloes A, Stanescu V, Stanescu R : Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course. Am J Med Genet 1991; 39: 4–10.
5. Le Merrer M, Maroteaux P : Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia. Pediatr Radiol 1998; 28: 771–775.
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