Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome.

Marques-Pinheiro, Alice

Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome. [electronic resource] - Joint bone spine Mar 2010 - 151-3 p. digital

Publication Type: Case Reports; Journal Article

1778-7254

10.1016/j.jbspin.2009.11.013 doi


Blindness--genetics
Bone Density--genetics
Fractures, Bone--genetics
Frameshift Mutation
Humans
LDL-Receptor Related Proteins--genetics
Low Density Lipoprotein Receptor-Related Protein-5
Male
Osteoporosis--genetics
Sequence Analysis, DNA
Syndrome
Young Adult