Severe phenotype of junctional epidermolysis bullosa generalised intermediate type caused by homozygous COL17A1:c.505C>T (p.Arg169*) mutation

Eur J Dermatol. 2018 Jun 1;28(3):412-413. doi: 10.1684/ejd.2018.3279.

¹ Paediatrics Department, Hospital of Divino Espírito Santo of Ponta Delgada, EPER, Ponta Delgada, São Miguel Island, Azores, Portugal.
² The National Diagnostic EB Lab, St Thomas' Hospital, London, UK.
³ Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPER, Ponta Delgada, São Miguel Island, Azores, Portugal, BioISI - Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Lisboa, Portugal, Instituto Gulbenkian de Ciência, Oeiras, Portugal.

No abstract available

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