SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome by 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 in American journal of human genetics (2008).

[PMID: 18342287] PubMed

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