TY  - GEN
AU  - Marques-Pinheiro,Alice
AU  - Levasseur,Régis
AU  - Cormier,Catherine
AU  - Bonneau,Jessica
AU  - Boileau,Catherine
AU  - Varret,Mathilde
AU  - Abifadel,Marianne
AU  - Allanore,Yannick
TI  - Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome
SN  - 1778-7254
PY  - 2010///0617
KW  - Blindness
KW  - genetics
KW  - Bone Density
KW  - Fractures, Bone
KW  - Frameshift Mutation
KW  - Humans
KW  - LDL-Receptor Related Proteins
KW  - Low Density Lipoprotein Receptor-Related Protein-5
KW  - Male
KW  - Osteoporosis
KW  - Sequence Analysis, DNA
KW  - Syndrome
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.jbspin.2009.11.013
ER  -