Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene

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Bibliographic Details
Published in:British journal of dermatology (1951) 2001-05, Vol.144 (5), p.1086-1087
Main Authors: Jansen, T., De Paepe, A., Nuytinck, L., Altmeyer, P.
Format: Article
Language:English
Subjects:
Adult
Ehlers-Danlos Syndrome - genetics
Female
Humans
Mutation, Missense
Phenotype
Procollagen - genetics
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ISSN:0007-0963
1365-2133
DOI:10.1046/j.1365-2133.2001.04206.x