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

Joint Bone Spine

Volumn 77, Issue 2, 2010, Pages 151-153

  Marques Pinheiro, Alice ^a   Levasseur, Régis ^b,c   Cormier, Catherine ^d   Bonneau, Jessica ^a   Boileau, Catherine ^a,e   Varret, Mathilde ^a   Abifadel, Marianne ^a,f   Allanore, Yannick ^a,d  

^a INSERM   (France)

^b Universite d'Angers   (France)

^c ANGERS UNIVERSITY HOSPITAL   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^f SAINT JOSEPH UNIVERSITY   (Lebanon)

Author keywords

Low density lipoprotein receptor related protein 5; Osteoporosis; Osteoporosis pseudoglioma syndrome

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5;

ADULT; ARTICLE; BONE DENSITY; CASE REPORT; CONGENITAL BLINDNESS; CONSANGUINEOUS MARRIAGE; DNA SEQUENCE; FRACTURE; FRAMESHIFT MUTATION; GENE MUTATION; HOMOZYGOSITY; HUMAN; LOSS OF FUNCTION MUTATION; MALE; NORRIE DISEASE; OSTEOPOROSIS; PHENOTYPE; RARE DISEASE; TUNISIA;

BLINDNESS; BONE DENSITY; FRACTURES, BONE; FRAMESHIFT MUTATION; HUMANS; LDL-RECEPTOR RELATED PROTEINS; MALE; OSTEOPOROSIS; SEQUENCE ANALYSIS, DNA; SYNDROME; YOUNG ADULT;

EID: 77949774449     PISSN: 1297319X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jbspin.2009.11.013     Document Type: Article

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