Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn.

Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn.
Acta Derm Venereol. 2019 Sep 10;:
Authors: 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
PMID: 31502654 [PubMed - as supplied by publisher]

Source: Acta Dermato-Venereologica - September 9, 2019 Category: Dermatology Authors: 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, Tags: Acta Derm Venereol Source Type: research