Article
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Human mutation - 1 Apr 2015
Gil-Rodríguez María Concepción, Deardorff Matthew A, Ansari Morad, Tan Christopher A, Parenti Ilaria, Baquero-Montoya Carolina, Ousager Lilian B, Puisac Beatriz, Hernández-Marcos María, Teresa-Rodrigo María Esperanza, Marcos-Alcalde Iñigo, Wesselink Jan-Jaap, Lusa-Bernal Silvia, Bijlsma Emilia K, Braunholz Diana, Bueno-Martinez Inés, Clark Dinah, Cooper Nicola S, Curry Cynthia J, Fisher Richard, Fryer Alan, Ganesh Jaya, Gervasini Cristina, Gillessen-Kaesbach Gabriele, Guo Yiran, Hakonarson Hakon, Hopkin Robert J, Kaur Maninder, Keating Brendan J, Kibaek María, Kinning Esther, Kleefstra Tjitske, Kline Antonie D, Kuchinskaya Ekaterina, Larizza Lidia, Li Yun R, Liu Xuanzhu, Mariani Milena, Picker Jonathan D, Pié Ángeles, Pozojevic Jelena, Queralt Ethel, Richer Julie, Roeder Elizabeth, Sinha Anubha, Scott Richard H, So Joyce, Wusik Katherine A, Wilson Louise, Zhang Jianguo, Gómez-Puertas Paulino, Casale César H, Ström Lena, Selicorni Angelo, Ramos Feliciano J, Jackson Laird G, Krantz Ian D, Das Soma, Hennekam Raoul C M, Kaiser Frank J, FitzPatrick David R, Pié Juan
Abstract excerpt
Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features from a single CdLS...
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