Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene.

Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene.

The Ehlers-Danlos syndrome type IV (EDS-IV) is a hereditary, autosomal dominant disease that causes a defect in the procollagen III synthesis, which results in a structural modification in this protein. An awareness of the disease is of vital importance for the optimal outcome, since the affected in...

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Bibliographic Details
Main Authors: Marta Rebelo, Leonor Ramos, Jandira Lima, J Diniz Vieira, Purificação Tavares, Luísa Teixeira, Albuquerque Matos, J Nascimento Costa
Format: Article
Language:English
Published: Ordem dos Médicos 2012-06-01
Series:Acta Médica Portuguesa
Online Access:https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1405

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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1405

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