Article
PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Oct 2017
Kämpe A J, Costantini A, Mäkitie R E, Jäntti N, Valta H, Mäyränpää M, Kröger H, Pekkinen M, Taylan F, Jiao H, Mäkitie O
Abstract excerpt
Altogether 95 children with primary bone fragility were screened for variants in PLS3, the gene underlying X-linked osteoporosis. Two children with multiple peripheral and spinal fractures and low BMD had novel disease-causing PLS3 variants. Children with milder phenotypes had no pathogenic variants. PLS3 screening is indicated in childhood-onset primary osteoporosis. INTRODUCTION: The study aimed to determine...
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