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Uniparental disomy of Chromosome 2 unmasks new ITGA6 recessive mutation and results in a lethal junctional epidermolysis bullosa in a newborn


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Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Clinic for Surgery
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:30 January 2020
Deposited On:20 Feb 2020 16:38
Last Modified:20 Feb 2020 16:39
Publisher:Society for the Publication of Acta Dermato-Venereologica
ISSN:0001-5555
OA Status:Gold
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.2340/00015555-3313
PubMed ID:31502654

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