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pro vyhledávání: '"Sabine Afchani"'
Autor:
Soruba Sivamoorthy, Lakshmi Nagarajan, Tanya Grumball, Julian Ik-Tsen Heng, Ashleigh Murch, Joanne Peverall, Sabine Afchani, John Wray, Matthew S. Edwards, Julie Stampalia, Hamid Alinejad-Rokny, Cathy Kiraly-Borri, Jacqueline Scurlock, Hashika Rijhumal, Fiona Haslam McKenzie, Gareth Baynam, John Beilby, Kim Potts, Hannah Vanyai, Andrew J. O. Whitehouse, Fiona Taylor, Karen J. Woodward
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Chromosome 22q11.2 is susceptible to genomic rearrangements and the most frequently reported involve deletions and duplications between low copy repeats LCR22A to LCR22D. Atypical nested deletions and duplications are rarer and can provide