Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

2014168 citationsJournal Articlebronze Open Access

Authors

Future diagnostic testing in 'mutation-negative' CdLS thus merits deeper sequencing of multiple DNA samples derived from different tissues.

Reduced inequalities

Published in: Journal of Medical Genetics

Volume 51, Issue 10, pp. 659-668

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