Mutations in cohesion complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominat mental retardation

Autor: Deardoff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodriguez C, Arnedo M, Loeys B, Kloine AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID

Publikováno v: American journal of human genetics 80 (2007): 485–494.
info:cnr-pdr/source/autori:Deardoff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodriguez C, Arnedo M, Loeys B, Kloine AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID/titolo:Mutations in cohesion complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominat mental retardation/doi:/rivista:American journal of human genetics/anno:2007/pagina_da:485/pagina_a:494/intervallo_pagine:485–494/volume:80

Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively. Recently, mutations in the cohesin complex structural component SMC1A have been identified

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::9d6b0f6552e08c7609471e95031520e9
https://publications.cnr.it/doc/55889

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