2010•The American Journal of Human GeneticsOpen access

Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS

Feng Zhang, Lorraine Potocki, Jacinda B. Sampson, Pengfei Liu, Amarilis Sanchez‐Valle, Patricia J. Robbins-Furman, A Delicado Navarro, Patricia G. Wheeler, J. Edward Spence, Campbell K. Brasington, Marjorie A. Withers, James R. Lupski

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Key concepts: Gene duplication, Segmental duplication, Non-allelic homologous recombination, Homologous recombination, Genetics, Biology, Copy-number variation, Gene rearrangement