Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations

Journal of Dermatological Science

Volumn 64, Issue 3, 2011, Pages 237-240

  Drera, Bruno ^a   Zoppi, Nicoletta ^a   Ritelli, Marco ^a   Barlati, Sergio ^a   Colombi, Marina ^a   Tadini, Gianluca ^b   Venturini, Marina ^a   Calzavara Pinton, Piergiacomo ^a   Wischmeijer, Anita ^c   Nicolazzi, Maria Anna ^d   Musumeci, Alfredo ^e   Penco, Silvana ^f   Buscemi, Loredana ^g   Crivelli, Sara ^h   Danesino, Cesare ⁱ   Clementi, Maurizio ^j   Viglio, Simona ⁱ   Valli, Maurizia ⁱ  

^a UNIVERSITY OF BRESCIA   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d CATHOLIC UNIVERSITY   (Italy)

^e S MARIA DEGLI ANGELI HOSPITAL   (Italy)

^f OSPEDALE NIGUARDA CA GRANDA   (Italy)

^g UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^h UNIVERSITY OF MILAN   (Italy)

ⁱ UNIVERSITY OF PAVIA   (Italy)

^j UNIVERSITY OF PADOVA   (Italy)

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Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 3;

ADULT; ANEURYSM RUPTURE; ARTERY DISSECTION; CLINICAL ARTICLE; CLINICAL FEATURE; COL3A1 GENE; CONTROLLED STUDY; EHLERS DANLOS SYNDROME; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; LETTER; MALE; MUTATIONAL ANALYSIS; PREMATURE FETUS MEMBRANE RUPTURE; PRIORITY JOURNAL; SPLEEN RUPTURE; UTERUS RUPTURE;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CELLS, CULTURED; CHILD; COLLAGEN TYPE III; DNA MUTATIONAL ANALYSIS; EHLERS-DANLOS SYNDROME; FEMALE; FIBROBLASTS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; ITALY; MALE; MUTATION; PHENOTYPE; PROGNOSIS; SKIN; YOUNG ADULT;

EID: 80055088359     PISSN: 09231811     EISSN: 1873569X     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2011.09.002     Document Type: Letter

References (10)

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