Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.

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@article{Pi2010MutationsAV, title={Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.}, author={Juan Pi{\'e} and Mar{\'i}a Concepci{\'o}n Gil-Rodr{\'i}guez and Milagros Ciero and Eduardo L{\'o}pez-Vi{\~n}as and Mar{\'i}a Pilar Ribate and Mar{\'i}a Arnedo and Matthew A Deardorff and Beatriz Puisac and Jes{\'u}s Legarreta and Juan Carlos de Karam and Encarnaci{\'o}n Rubio and In{\'e}s Bueno and Antonio Baldellou and Mar{\'i}a-Teresa Calvo and N{\'u}ria Casals and Jos{\'e} Luis G{\'o}mez Olivares and Ana Losada and Fausto G. Hegardt and Ian D. Krantz and Paulino G{\'o}mez-Puertas and Feliciano J. Ramos}, journal={American journal of medical genetics. Part A}, year={2010}, volume={152A 4}, pages={924-9} }