SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
SLC9A6基因突变会导致X连锁智力低下、小头畸形、癫痫和共济失调,其表型与安格曼综合征相似。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2008.01.013
Gilfillan, Gregor D; Selmer, Kaja K; Roxrud, Ingrid; Smith, Raffaella; Kyllerman, Mårten; Eiklid, Kristin; Kroken, Mette; Mattingsdal, Morten; Egeland, Thore; Stenmark, Harald; Sjøholm, Hans; Server, Andres; Samuelsson, Lena; Christianson, Arnold; Tarpey, Patrick; Whibley, Annabel; Stratton, Michael R; Futreal, P Andrew; Teague, Jon; Edkins, Sarah; Gecz, Jozef; Turner, Gillian; Raymond, F Lucy; Schwartz, Charles; Stevenson, Roger E; Undlien, Dag E; Strømme, Petter