Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2

American Journal of Medical Genetics, Part A

Volumn 149, Issue 3, 2009, Pages 461-465

  Faqeih, Eissa ^a,b   Roughley, Peter ^a   Glorieux, Francis H ^a   Rauch, Frank ^a,c  

^a MCGILL UNIVERSITY   (Canada)

^b KING FAHAD MEDICAL CITY   (Saudi Arabia)

^c SHRINERS HOSPITAL FOR CHILDREN   (Canada)

Author keywords

Brachydactyly; Collagen type I; Digital anomaly; Osteogenesis imperfecta; Subdural hematoma

Indexed keywords

ALENDRONIC ACID; BISPHOSPHONIC ACID DERIVATIVE; COLLAGEN TYPE 1; GENOMIC DNA; GLYCINE; PAMIDRONIC ACID;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BONE BIOPSY; BONE DENSITY; BONE MALFORMATION; BONE RADIOGRAPHY; BRACHYDACTYLY; BRAIN HEMORRHAGE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; EPIDURAL HEMATOMA; EXON; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GROUPS BY AGE; HUMAN; MALE; NAIL HYPOPLASIA; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD;

ADOLESCENT; AMINO ACID SEQUENCE; CHILD; COHORT STUDIES; COLLAGEN TYPE I; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GLYCINE; HUMANS; INTRACRANIAL HEMORRHAGES; LIMB DEFORMITIES, CONGENITAL; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOGENESIS IMPERFECTA; PROTEIN STRUCTURE, TERTIARY;

EID: 61749087523     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32653     Document Type: Article

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