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pro vyhledávání: '"Milagros Ciero"'
Autor:
Eduardo López-Viñas, Beatriz Puisac, Antonio Baldellou, Fausto G. Hegardt, Matthew A. Deardorff, Jesús Legarreta, Juan C. de Karam, Ian D. Krantz, Juan Pié, Milagros Ciero, Inés Bueno, María Concepción Gil-Rodríguez, María Teresa Echeverría Arnedo, Encarnación Rubio, Feliciano J. Ramos, Ana Losada, Paulino Gómez-Puertas, Núria Casals, María Pilar Ribate, Mª Teresa Calvo, José L. Olivares
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 p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2441c0ea76af1bde9e629e8d71925d29
https://europepmc.org/articles/PMC2923429/
https://europepmc.org/articles/PMC2923429/
