Clinical Practice Guidelines for Epidermolysis Bullosa Laboratory Diagnosis
| dc.contributor.author | Has, Cristina | |
| dc.contributor.author | Liu, Lu | |
| dc.contributor.author | Bolling, Marieke | |
| dc.contributor.author | Charlesworth, Alexandra V. | |
| dc.contributor.author | Hachem, May El | |
| dc.contributor.author | Escámez, María José | |
| dc.contributor.author | Fuentes, Ignacia | |
| dc.contributor.author | Büche, Sarah | |
| dc.contributor.author | Hiremagalore, Ravi | |
| dc.contributor.author | Pohla-Gubo, Gabriele | |
| dc.contributor.author | Akker, Peter van den | |
| dc.contributor.author | Wertheim-Tysarowska, Katarzyna | |
| dc.contributor.author | Zambruno, Giovanna | |
| dc.date.accessioned | 2020-04-01T18:31:54Z | |
| dc.date.available | 2020-04-01T18:31:54Z | |
| dc.date.issued | 2019 | |
| dc.description.abstract | The overall objective of this guideline is to provide the user with information on the laboratory diagnosis of inherited epidermolysis bullosa (EB) to improve outcomes (Table 1). An accurate diagnosis and subclassification of EB enables (i) early prognostication of disease severity, (ii) decision making for patient management, (iii) informed genetic counselling for the patient and family and DNA‐based prenatal or preimplantation genetic diagnosis, (iv) long‐term surveillance and management of possible complications, (v) inclusion in clinical trials and (vi) precision medicine. | |
| dc.format.extent | 60 p. | |
| dc.identifier.citation | British Journal of Dermatology. 2020 Mar;182(3):574-592 | |
| dc.identifier.uri | http://hdl.handle.net/11447/3197 | |
| dc.identifier.uri | https://doi.org/10.1111/bjd.18128 | |
| dc.language.iso | en | |
| dc.subject | Molecular diagnosis | |
| dc.subject | Genetic diagnosis | |
| dc.subject | Genodermatosis | |
| dc.subject | Skin fragility | |
| dc.subject | Epidermolysis bullosa | |
| dc.title | Clinical Practice Guidelines for Epidermolysis Bullosa Laboratory Diagnosis | |
| dc.type | Article |