Article
Osteoporosis caused by mutations in PLS3: clinical and bone tissue characteristics.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Aug 2014
Fahiminiya Somayyeh, Majewski Jacek, Al-Jallad Hadil, Moffatt Pierre, Mort John, Glorieux Francis H, Roschger Paul, Klaushofer Klaus, Rauch Frank
Abstract excerpt
Mutations in PLS3 have been identified as a cause of bone fragility in children, but the bone phenotype associated with PLS3 mutations has not been reported in detail. PLS3 is located on the X chromosome and encodes the actin-binding protein plastin 3. Here we describe skeletal findings in 4 boys from 2 families with mutations in PLS3 (c.994_995delGA; p.Asp332* in family 1; c.1433T > C; p.Leu478Pro in family 2)....
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