Skeletal characteristics associated with homozygous and heterozygous WNT1 mutations

Bone

Volumn 67, Issue , 2014, Pages 63-70

  Palomo, Telma ^a   Al Jallad, Hadil ^a   Moffatt, Pierre ^a   Glorieux, Francis H ^a   Lentle, Brian ^b   Roschger, Paul ^c   Klaushofer, Klaus ^c   Rauch, Frank ^a  

^a SHRINERS HOSPITAL FOR CHILDREN   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c HANUSCH HOSPITAL   (Austria)

Author keywords

Backscattered electron imaging; Bone fragility; Osteogenesis imperfecta; Osteoporosis; Vertebral fractures; WNT1

Indexed keywords

PAMIDRONIC ACID; WNT1 PROTEIN; ZOLEDRONIC ACID; BISPHOSPHONIC ACID DERIVATIVE; COLLAGEN TYPE 1; COLLAGEN TYPE I, ALPHA 1 CHAIN; WNT1 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; BONE DENSITY; BONE DEVELOPMENT; BONE FRAGILITY; BONE MALFORMATION; BONE MASS; BONE MINERALIZATION; CHILD; COL1A1 GENE; COL1A2 GENE; DISEASE SEVERITY; DUAL ENERGY X RAY ABSORPTIOMETRY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE FUNCTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; ILIAC BONE; IN VITRO STUDY; LUCIFERASE ASSAY; LUMBAR SPINE; MALE; MISSENSE MUTATION; MORPHOMETRICS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; ORTHOPEDIC SURGERY; OSTEOGENESIS IMPERFECTA; RECESSIVE BONE FRAGILITY; SPINE DEVELOPMENT; SPINE FRACTURE; STOP CODON; WNT SIGNALING PATHWAY; WNT1 GENE; GENETICS; HOMOZYGOTE; INFANT; MUTATION; OSTEOPOROSIS; SPINAL FRACTURES;

BONE DENSITY; COLLAGEN TYPE I; DIPHOSPHONATES; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; MALE; MUTATION; OSTEOGENESIS IMPERFECTA; OSTEOPOROSIS; SPINAL FRACTURES; WNT1 PROTEIN;

EID: 84904513246     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2014.06.041     Document Type: Article

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