Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting and associated phenotypes.
Ulrik Kristoffer Stoltze, Thomas Van Overeem Hansen, Jesper Sune Brok, Karen Grønskov, Zeynep Tumer, Lise Barlebo Ahlborn, Kjeld Schmiegelow, Karin A W Wadt
Author Information
- Ulrik Kristoffer Stoltze: Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark ulrik.kristoffer.stoltze@regionh.dk. ORCID
- Thomas Van Overeem Hansen: Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.
- Jesper Sune Brok: Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen, Denmark.
- Karen Grønskov: Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.
- Zeynep Tumer: Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.
- Lise Barlebo Ahlborn: Center for Genomic Medicine, Rigshospitalet, Copenhagen, Denmark.
- Kjeld Schmiegelow: Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen, Denmark.
- Karin A W Wadt: Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.
No abstract text available.
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Humans
Beckwith-Wiedemann Syndrome
DNA Methylation
Genomic Imprinting
Paternal Inheritance
Phenotype
Maternal Inheritance
Male
Female
RNA, Long Noncoding
KCNQ1OT1 long non-coding RNA, human
RNA, Long Noncoding
