Helical mutations in type i collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Malfait, Fransiska ^a   Symoens, Sofie ^a   Goemans, Nathalie ^b   Gyftodimou, Yolanda ^c   Holmberg, Eva ^d   López González, Vanesa ^e   Mortier, Geert ^f,i   Nampoothiri, Sheela ^g   Petersen, Michael Bjorn ^c,h   De Paepe, Anne ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c Institute of Child Health   (Greece)

^d SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^e HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^f ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^g AMRITA INSTITUTE OF MEDICAL SCIENCES   (India)

^h AALBORG UNIVERSITY HOSPITAL   (Denmark)

ⁱ GHENT UNIVERSITY   (Belgium)

Author keywords

Arterial fragility; Ehlers Danlos syndrome; Genotype; Osteogenesis Imperfecta; Phenotype; Type I collagen

Indexed keywords

COLLAGEN TYPE 1; PROCOLLAGEN;

ARTICLE; BONE FRAGILITY; CLINICAL ARTICLE; COMPRESSION FRACTURE; CONTROLLED STUDY; EHLERS DANLOS SYNDROME; EXON; FEMALE; GENE MUTATION; GENETIC COUNSELING; HUMAN; HUMERUS FRACTURE; JOINT LAXITY; MALE; MISSENSE MUTATION; OSTEOGENESIS IMPERFECTA; OSTEOPENIA; PELVIS FRACTURE; PHENOTYPE;

ADULT; CHILD; COLLAGEN TYPE I; EHLERS-DANLOS SYNDROME; FEMALE; GENOTYPE; HUMANS; MALE; MUTATION; OSTEOGENESIS IMPERFECTA; PEPTIDE FRAGMENTS; PHENOTYPE; PROCOLLAGEN;

EID: 84877911041     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-78     Document Type: Article

References (17)

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