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

Ansari M., Poke G., Ferry Q., Williamson K., Aldridge R., Meynert AM., Bengani H., Chan CY., Kayserili H., Avci Ş., Hennekam RCM., Lampe AK., Redeker E., Homfray T., Ross A., Falkenberg Smeland M., Mansour S., Parker MJ., Cook JA., Splitt M., Fisher RB., Fryer A., Magee AC., Wilkie A., Barnicoat A., Brady AF., Cooper NS., Mercer C., Deshpande C., Bennett CP., Pilz DT., Ruddy D., Cilliers D., Johnson DS., Josifova D., Rosser E., Thompson EM., Wakeling E., Kinning E., Stewart F., Flinter F., Girisha KM., Cox H., Firth HV., Kingston H., Wee JS., Hurst JA., Clayton-Smith J., Tolmie J., Vogt J., Tatton–Brown K., Chandler K., Prescott K., Wilson L., Behnam M., McEntagart M., Davidson R., Lynch S-A., Sisodiya S., Mehta SG., McKee SA., Mohammed S., Holden S., Park S-M., Holder SE., Harrison V., McConnell V., Lam WK., Green AJ., Donnai D., Bitner-Glindzicz M., Donnelly DE., Nellåker C., Taylor MS., FitzPatrick DR.

DOI

10.1136/jmedgenet-2014-102573

Type

Journal article

Journal

Journal of Medical Genetics

Publisher

BMJ

Publication Date

10/2014

Volume

51

Pages

659 - 668

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