Osteogenesis imperfecta: The audiological phenotype lacks correlation with the genotype

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Swinnen, Freya K R ^a   Coucke, Paul J ^a   De Paepe, Anne M ^a   Symoens, Sofie ^a   Malfait, Fransiska ^a   Gentile, Filomena V ^b   Sangiorgi, Luca ^b   D'Eufemia, Patrizia ^c   Celli, Mauro ^c   Garretsen, Ton J T M ^d   Cremers, Cor Wrj ^e   Dhooge, Ingeborg J M ^a   De Leenheer, Els M R ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d Location Alkmaar   (Netherlands)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

COL1A1; COL1A2; genotype phenotype correlation; hearing loss; Osteogenesis Imperfecta

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; AUDIOLOGY; CHILD; CLINICAL EVALUATION; COL1A1 GENE; COL1A2 GENE; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; EAR; FAMILY; FEMALE; GENE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MIXED HEARING LOSS; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; PRESCHOOL CHILD; PREVALENCE; SCHOOL CHILD; AUDIOMETRY; BELGIUM; GENETICS; GENOTYPE; HEARING LOSS; ITALY; MIDDLE AGED; NETHERLANDS; PHENOTYPE; RISK FACTOR;

ALPHA 2(I) COLLAGEN; COLLAGEN TYPE 1; COLLAGEN TYPE I, ALPHA 1 CHAIN;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AUDIOMETRY; BELGIUM; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE I; FEMALE; GENOTYPE; HEARING LOSS; HUMANS; ITALY; MALE; MIDDLE AGED; NETHERLANDS; OSTEOGENESIS IMPERFECTA; PHENOTYPE; RISK FACTORS; YOUNG ADULT;

EID: 84855170534     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-88     Document Type: Article

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