Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.

Recurrent rearrangements of chromosome 1q21.1 that occur via non-allelic homologous recombination have been associated with variable phenotypes exhibiting incomplete penetrance, including congenital heart disease (CHD). However, the gene or genes within the ~1 Mb critical region responsible for each...

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Bibliographic Details
Main Authors:	Soemedi, R, Topf, A, Wilson, I, Darlay, R, Rahman, T, Glen, E, Hall, D, Huang, N, Bentham, J, Bhattacharya, S, Cosgrove, C, Brook, J, Granados-Riveron, J, Setchfield, K, Bu'lock, F, Thornborough, C, Devriendt, K, Breckpot, J, Hofbeck, M, Lathrop, M, Rauch, A, Blue, G, Winlaw, D, Hurles, M, Santibanez-Koref, M
Format:	Journal article
Language:	English
Published:	2012

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.

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