Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

Genetics in Medicine

Volumn 12, Issue 10, 2010, Pages 597-605

  Malfait, Fransiska ^a   Wenstrup, Richard J ^b   De Paepe, Anne ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b Myriad Genetic Laboratories   (United States)

Author keywords

COL5A1; COL5A2; collagen; Ehlers Danlos syndrome classic type; genetics; management; molecular testing; natural history

Indexed keywords

COLLAGEN TYPE 5;

DISEASE SEVERITY; EHLERS DANLOS SYNDROME; GENE MUTATION; HUMAN; JOINT HYPERMOBILITY; PHENOTYPE; REVIEW; SCAR; SKIN BRUISING; SKIN FRAGILITY; WOUND HEALING IMPAIRMENT;

COLLAGEN TYPE V; CONNECTIVE TISSUE; CONTUSIONS; EHLERS-DANLOS SYNDROME; GENOTYPE; HAPLOINSUFFICIENCY; HUMANS; JOINT INSTABILITY; MUTATION; PHENOTYPE;

EID: 78049254882     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181eed412     Document Type: Review

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