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

• Main Authors: Rebecca Higgins (Author), Annika N. Jensen (Author), Julian Wachstein (Author), Leena Bruckner-Tuderman (Author), Roland Spiegel (Author), Hubert Traber (Author), Josef Achermann (Author), Martin Schaller (Author), Birgit Fehrenbacher (Author), Martin Röcken (Author), Desislava Ignatova (Author), Yun-Tsan Chang (Author), Tina Fischer (Author), Agnes E. Schwieger-Briel (Author), Lars E. French (Author), Wolfram Hoetzenecker (Author), René Hornung (Author), Andreas Malzacher (Author), Antonio Cozzio (Author), Alexander Navarini (Author), Cristina Has (Author), Emmanuella Guenova (Author)
• פורמט: ספר
• יצא לאור: Medical Journals Sweden, 2020-01-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract is missing (Short communication)