Article
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
American journal of medical genetics. Part A - 1 May 2014
Bonafé Luisa, Liang Jinlong, Gorna Maria W, Zhang Qingyan, Ha-Vinh Russia, Campos-Xavier Ana Belinda, Unger Sheila, Beckmann Jacques S, Le Béchec Antony, Stevenson Brian, Giedion Andres, Liu Xuanzhu, Superti-Furga Giulio, Wang Wei, Spahr André, Superti-Furga Andrea
Abstract excerpt
Metaphyseal dysplasia, Spahr type (MDST; OMIM 250400) was described in 1961 based on the observation of four children in one family who had rickets-like metaphyseal changes but normal blood chemistry and moderate short stature. Its molecular basis and nosologic status remained unknown. We followed up on those individuals and diagnosed the disorder in an additional member of the family. We used exome sequencing to...
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