Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

Li, Dong

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia. [electronic resource] - European journal of human genetics : EJHG Feb 2015 - 264-6 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural

1476-5438

10.1038/ejhg.2014.76 doi


Adolescent
Child
Codon, Nonsense
Exons
Genes, Recessive
Humans
Limb Deformities, Congenital--diagnosis
Male
Matrix Metalloproteinase 13--genetics
Osteochondrodysplasias--diagnosis
Siblings