Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing <i>SLC20A2</i> and <i>THAP1</i>.

Mu, Weiyi; Tochen, Laura; Bertsch, Caroline; Singer, Harvey S; Barañano, Kristin W.
BMJ Case Rep; 12(5)2019 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-31133547