Possible critical region associated with late-onset spasms in 17p13.1-p13.2 microdeletion syndrome: a report of two new cases and review of the literature.
Yamamoto N, Okazaki S, Kuki I, Yamada N, Nagase S, Nukui M, Inoue T, Kawakita R, Yorifuji T, Hoshina T, Seto T, Yamamoto T, Kawawaki H.
Yamamoto N, et al.
Epileptic Disord. 2022 Jun 1;24(3):567-571. doi: 10.1684/epd.2022.1416.
Epileptic Disord. 2022.
PMID: 35653098
Review.
English.
17p13.1-2 microdeletion syndrome is a congenital anomaly syndrome with characteristic facial features and multiple malformations. ...We experienced two cases of 17p13.1-2 microdeletion syndrome, one of which presented with epilepti …
17p13.1-2 microdeletion syndrome is a congenital anomaly syndrome with characteristic facial features and multip …