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

doi:10.1002/ajmg.a.33348

Article

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

American journal of medical genetics. Part A - 1 Apr 2010

Pié Juan, Gil-Rodríguez María Concepción, Ciero Milagros, López-Viñas Eduardo, Ribate María Pilar, Arnedo María, Deardorff Matthew A, Puisac Beatriz, Legarreta Jesús, de Karam Juan Carlos, Rubio Encarnación, Bueno Inés, Baldellou Antonio, Calvo M Teresa, Casals Nuria, Olivares José Luis, Losada Ana, Hegardt Fausto G, Krantz Ian D, Gómez-Puertas Paulino, Ramos Feliciano J

Abstract excerpt

Cornelia de Lange syndrome (CdLS) manifests facial dysmorphic features, growth and cognitive impairment, and limb malformations. Mutations in three genes (NIPBL, SMC1A, and SMC3) of the cohesin complex and its regulators have been found in affected patients. Here, we present clinical and molecula...

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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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