Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.
Bruno
B
Drera
Nicoletta
N
Zoppi
Marco
M
Ritelli
Gianluca
G
Tadini
Marina
M
Venturini
Anita
A
Wischmeijer
Maria Anna
MA
Nicolazzi
Alfredo
A
Musumeci
Silvana
S
Penco
Loredana
L
Buscemi
Sara
S
Crivelli
Cesare
C
Danesino
Maurizio
M
Clementi
Piergiacomo
P
Calzavara-Pinton
Simona
S
Viglio
Maurizia
M
Valli
Sergio
S
Barlati
Marina
M
Colombi
D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002478:Cells, Cultured; D002648:Child; D024061:Collagen Type III / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000401:mortality / Q000473:pathology; D005260:Female; D005347:Fibroblasts / Q000378:metabolism* / Q000473:pathology; D020022:Genetic Predisposition to Disease; D006801:Humans; D007558:Italy; D008297:Male; D009154:Mutation; D010641:Phenotype; D011379:Prognosis; D012867:Skin / Q000378:metabolism* / Q000473:pathology; D055815:Young Adult
C439971:COL3A1 protein, human; D024061:Collagen Type III