@article{oai:u-ryukyu.repo.nii.ac.jp:02012389,
 author = {Chinen, Yasutsugu and Nakamura, Sadao and Kaneshi, Takuya and Nakayashiro, Mami and Yanagi, Kumiko and Kaname, Tadashi and Naritomi, Kenji and Nakanishi, Koichi},
 journal = {Human Genome Variation},
 month = {May},
 note = {Cornelia de Lange syndrome (CdLS) is a cohesinopathy caused by genetic variations. We present a female with SMC1A-associated CdLS with a novel SMC1A truncation mutation (p. Arg499Ter), transposition of the great arteries, and periodic intractable seizures from 40 months of age. A review of the literature revealed that a seizure-free period after birth of at least 15 months is required for these patients to be able to walk, irrespective of the epileptic course., 論文},
 title = {A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation},
 volume = {6},
 year = {2019}
}