Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn.
Higgins R, Jensen AN, Wachstein J, Bruckner-Tuderman L, Spiegel R, Traber H, Achermann J, Schaller M, Fehrenbacher B, Röcken M, Ignatova D, Chang YT, Fischer T, Schwieger-Briel AE, French LE, Hoetzenecker W, Hornung R, Malzacher A, Cozzio A, Navarini A, Has C, Guenova E.
Higgins R, et al. Among authors: rocken m.
Acta Derm Venereol. 2020 Jan 30;100(1):adv00041. doi: 10.2340/00015555-3313.
Acta Derm Venereol. 2020.
PMID: 31502654
Free PMC article.
No abstract available.