Publication
Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn
Journal Paper/Review - Jan 30, 2020
Higgins Rebecca, Fischer Tina, Schwieger-Briel Agnes E, French Lars E, Hoetzenecker Wolfram, Hornung René, Malzacher Andreas, Cozzio Antonio, Navarini Alexander, Has Cristina, Chang Yun-Tsan, Desislava Ignatova, Jensen Annika N, Wachstein Julian, Bruckner-Tuderman Leena, Spiegel Roland, Traber Hubert, Achermann Josef, Schaller Martin, Fehrenbacher Birgit, Röcken Martin, Guenova Emmanuella
Units
PubMed
Doi
Citation
Higgins R, Fischer T, Schwieger-Briel A, French L, Hoetzenecker W, Hornung R, Malzacher A, Cozzio A, Navarini A, Has C, Chang Y, Desislava I, Jensen A, Wachstein J, Bruckner-Tuderman L, Spiegel R, Traber H, Achermann J, Schaller M, Fehrenbacher B, Röcken M, Guenova E. Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn. Acta Derm Venereol 2020; 100:adv00041.
Type
Journal Paper/Review (English)
Journal
Acta Derm Venereol 2020; 100
Publication Date
Jan 30, 2020
Issn Electronic
1651-2057
Pages
adv00041