PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants

SUMMARY: 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...

Descripción completa

Detalles Bibliográficos
Autores principales: Kämpe, A. J., Costantini, A., Mäkitie, R. E., Jäntti, N., Valta, H., Mäyränpää, M., Kröger, H., Pekkinen, M., Taylan, F., Jiao, H., Mäkitie, O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer London 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5624974/
https://www.ncbi.nlm.nih.gov/pubmed/28748388
http://dx.doi.org/10.1007/s00198-017-4150-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5624974/
https://www.ncbi.nlm.nih.gov/pubmed/28748388
http://dx.doi.org/10.1007/s00198-017-4150-9

Ejemplares similares