Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn
Abstract is missing (Short communication)
Saved in:
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) |
---|---|
Format: | Book |
Published: |
Medical Journals Sweden,
2020-01-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Prenatal ultrasound findings and clinical outcomes of uniparental disomy: a retrospective study
by: Cui-Yi Wu, et al.
Published: (2024) -
Soft tissue sarcoma subtypes exhibit distinct patterns of acquired uniparental disomy
by: Tuna Musaffe, et al.
Published: (2012) -
Increased Chlormethine-Induced DNA Double-Stranded Breaks in Malignant T Cells from Mycosis Fungoides Skin Lesions
by: Yun-Tsan Chang, et al.
Published: (2022) -
Comment on "Maternal uniparental disomy 21 in association with low-level mosaic trisomy 21 at amniocentesis"
by: Rujittika Mungmunpuntipantip, et al.
Published: (2022) -
Genome-Wide Detection of Uniparental Disomy in a Fetus with Intrauterine Growth Restriction Using Genotyping Microarrays
by: Yung-Kuei Soong, et al.
Published: (2009)