Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP

American Journal of Medical Genetics, Part A

Volumn 155, Issue 11, 2011, Pages 2865-2870

  Amor, I M Ben ^a   Rauch, F ^a   Gruenwald, K ^b   Weis, M ^c   Eyre, D R ^c   Roughley, P ^a   Glorieux, F H ^a   Morello, R ^b  

^a MCGILL UNIVERSITY   (Canada)

^b UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

Author keywords

3 hydroxylation complex; CRTAP; P3H1; Recessive osteogenesis imperfecta

Indexed keywords

BISPHOSPHONIC ACID DERIVATIVE; CARTILAGE ASSOCIATED PROTEIN; COMPLEMENTARY DNA; GENE PRODUCT; GENOMIC DNA; OXYGENASE; PROLYL 3 HYDROXYLASE 1; UNCLASSIFIED DRUG; ZOLEDRONIC ACID;

ARM FRACTURE; ARM MALFORMATION; ARTICLE; BONE DENSITY; BONE MALFORMATION; CARTILAGE ASSOCIATED PROTEIN GENE; CASE REPORT; CHILD; COMPRESSION FRACTURE; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FEMALE; FIBROBLAST; GENE; GENE DELETION; HUMAN; HUMAN CELL; HYDROXYLATION; LEG FRACTURE; LEG MALFORMATION; MULTIPLE CYCLE TREATMENT; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; OSTEOPENIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RIB FRACTURE; SCOLIOSIS; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; VERTEBRA FRACTURE;

BLOTTING, WESTERN; CHILD, PRESCHOOL; CYCLOPHILINS; EXONS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; FETUS; FLUORESCENT ANTIBODY TECHNIQUE; FRACTURES, BONE; HOMOZYGOTE; HUMANS; HYDROXYLATION; INFANT; INFANT, NEWBORN; MEMBRANE GLYCOPROTEINS; OSTEOGENESIS IMPERFECTA; PEDIGREE; PREGNANCY; PREGNANCY TRIMESTER, THIRD; PRIMARY CELL CULTURE; PROLINE; PROTEOGLYCANS; SCOLIOSIS; SEQUENCE DELETION;

EID: 80054913458     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34269     Document Type: Article

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