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Could a patient with SMC1A duplication be classified as a human cohesinopathy?
Baquero-Montoya C, Gil-Rodríguez MC, Teresa-Rodrigo ME, Hernández-Marcos M, Bueno-Lozano G, Bueno-Martínez I, Remeseiro S, Fernández-Hernández R, Bassecourt-Serra M, Rodríguez de Alba M, Queralt E, Losada A, Puisac B, Ramos FJ, Pié J. Baquero-Montoya C, et al. Among authors: bassecourt serra m. Clin Genet. 2014 May;85(5):446-51. doi: 10.1111/cge.12194. Epub 2013 Jun 17. Clin Genet. 2014. PMID: 23683030
[Complete triploidy 69,XXY].
Carceller Beltrán R, Sáenz Moreno I, Gracia Cervero E, Bassecourt Serra M, Ureña Hornos T, García-Dihinx Villanova J, López Pisón J, Marco Tello A, Rebage Moisés V. Carceller Beltrán R, et al. Among authors: bassecourt serra m. An Pediatr (Barc). 2004 Dec;61(6):562-4. doi: 10.1016/s1695-4033(04)78446-5. An Pediatr (Barc). 2004. PMID: 15574260 Free article. Spanish. No abstract available.