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

Concepedia

Publication | Open Access

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

DOI Full Paper Access

165

Citations

37

References

2014

Year

Morad Ansari, Gemma Poke, Quentin R. V. Ferry, Kathleen A. Williamson, Roland Christopher Lochore Aldridge, Alison Meynert, Hemant Bengani, Cheng Yee Chan, Hülya Kayserili, Raoul C. M. Hennekam,

Journal of Medical Genetics

Abstract

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

References

	Year	Citations

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