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  • Title: Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings.
    Author: Tadros S, Scott RH, Calder AD, Hurst JA.
    Journal: Clin Dysmorphol; 2017 Jan; 26(1):13-17. PubMed ID: 27576021.
    Abstract:
    We report on two siblings of Iraqi descent with clinical and radiographic features of metaphyseal dysplasia, Spahr type (MDST), born to consanguineous unaffected parents. Molecular testing confirmed pathogenic mutations in MMP13. We review the considerable overlap between MDST and other related disorders. These cases confirm the phenotypic variability and regressive nature of MDST in addition to suggesting bone fragility as a feature.
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