PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Mosaicism is increasingly recognized as a cause of developmental disorders with the advent of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been associated with the widest spectrum of phenotypes associated with overgrowth and vascular malformations. We performed targeted NGS usin...

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Bibliographic Details
Main Authors: Mirzaa, G, Timms, A, Conti, V, Boyle, E, Girisha, K, Martin, B, Kircher, M, Olds, C, Juusola, J, Collins, S, Park, K, Carter, M, Glass, I, Krägeloh-Mann, I, Chitayat, D, Parikh, A, Bradshaw, R, Torti, E, Braddock, S, Burke, L, Ghedia, S, Stephan, M, Stewart, F, Prasad, C, Napier, M, Saitta, S, Straussberg, R, Gabbett, M, O'Connor, B, Keegan, C, Yin, L, Lai, A, Martin, N, McKinnon, M, Addor, M, Boccuto, L, Schwartz, C, Lanoel, A, Conway, R, Devriendt, K, Tatton-Brown, K, Pierpont, M, Painter, M, Worgan, L, Reggin, J, Hennekam, R, Tsuchiya, K, Pritchard, C, Aracena, M, Gripp, K, Cordisco, M, Esch, H, Garavelli, L, Curry, C, Goriely, A, Kayserilli, H, Shendure, J, Graham, J, Guerrini, R, Dobyns, W
Format: Journal article
Language:English
Published: American Society for Clinical Investigation 2016

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