De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
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| Description | scientific article |
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author: Iñigo Marcos-Alcalde Juan Pié Carolina Baquero-Montoya Cristina Gervasini Paulino Gómez-Puertas Gabriele Gillessen-Kaesbach David FitzPatrick César H Casale Yun Rose Li María Esperanza Teresa-Rodrigo Lidia Larizza Beatriz Puisac María Concepción Gil-Rodríguez Matthew A Deardorff Angelo Selicorni Ian D Krantz Tjitske Kleefstra Raoul Hennekam Ethel Queralt Feliciano J Ramos Lilian Bomme Ousager Jan-Jaap Wesselink Hakon Hakonarson |
| Publication date | March 17, 2015 |
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