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

Dong Li(Children's Hospital of Philadelphia), Michael A. Levine(Children's Hospital of Philadelphia), Matthew A. Deardorff(Children's Hospital of Philadelphia), David R. Weber(Children's Hospital of Philadelphia), Håkon Håkonarson(Children's Hospital of Philadelphia)
European Journal of Human Genetics
April 30, 2014
10.1038/ejhg.2014.76
Cited by 18

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