• A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia
• An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias
• Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2
• Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia
• Identification of Novel Compound Heterozygous Variants of <em>MMP9</em> in Fetus With Metaphyseal Anadysplasia Type 2
• Identification of Novel Compound Heterozygous Variants of MMP9 in Fetus With Metaphyseal Anadysplasia Type 2
• Metaphyseal anadysplasia in two sisters
• Metaphyseal anadysplasia type 1: Familial and regressive rickets manifestation
• Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia
• Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course
• Metaphyseal anadysplasia: evidence of genetic heterogeneity
• MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type
• Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia
• Neuron subset-specific Pten deletion induces abnormal skeletal activity in mice
• Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing
• Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case