Efficiency of clinical exome sequencing in the diagnosis of pediatric genodermatoses: A prospective cohort study - 11/04/24
Doi : 10.1016/j.jaad.2023.12.041
Deborah Salik, MD, PhD a, b, ⁎ 
, Martina Marangoni, PhD b, Chantal Dangoisse, MD a, Bertrand Richert, MD, PhD a, Guillaume Smits, MD, PhD b, c, d
, Martina Marangoni, PhD b, Chantal Dangoisse, MD a, Bertrand Richert, MD, PhD a, Guillaume Smits, MD, PhD b, c, d a Department of Dermatology, CHU Saint-Pierre, CHU Brugmann and Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium
b Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Université Libre de Bruxelles (ULB), Brussels, Belgium
c Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Université Libre de Bruxelles (ULB), Brussels, Belgium
d Interuniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles, Brussels, Belgium
∗Correspondence to: Deborah Salik, MD, PhD, Department of Dermatology, Hôpital Universitaire des Enfants Reine Fabiola, Av JJ Crocq 15, Brussels, 1020, BelgiumHôpital Universitaire des Enfants Reine FabiolaAv JJ Crocq 15Brussels1020Belgium
Key words : clinical-exome sequencing, gene panel sequencing, genodermatosis, molecular diagnosis, pediatric
Plan
| Funding sources: Dr Déborah Salik was supported by a grant from “the Belgian Kids' Fund for Pediatric Research”. |
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| Patient consent: Consent for the publication of medical material was obtained by the authors and included at the time of article submission to the journal stating that all patients gave consent with the understanding that this information may be publicly available. |
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| IRB approval status: Reviewed and approved by ethical committees of the CHU-Saint-Pierre and Queen Fabiola Children's Hospitals in Brussels, Belgium under the reference B076201838166. |
© 2024
American Academy of Dermatology, Inc.. Publié par Elsevier Masson SAS. Tous droits réservés.
Vol 90 - N° 5
P. 1020-1023 - mai 2024 Retour au numéro
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