Article
Musculoskeletal phenotype in two unrelated individuals with a recurrent nonsense variant in SGMS2.
Bone - 1 May 2020
Robinson Marie-Eve, Bardai Ghalib, Veilleux Louis-Nicolas, Glorieux Francis H, Rauch Frank
Abstract excerpt
Heterozygous mutations in the gene encoding the sphingomyelin synthase 2, SGMS2, have recently been linked to childhood-onset osteoporosis and skeletal dysplasia. One nonsense variant at position c.148C>T (p.Arg50*) has been associated with mild bone fragility with or without cranial sclerosis. Here we assessed the effect of the SGMS2 p.Arg50* variant in two unrelated probands with childhood-onset osteoporosis...
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