Publications:

Primary brain calcification: an international study reporting novel variants and associated phenotypes.

European Journal Of Human Genetics : Ejhg

Ramos, Eliana Marisa EM; Carecchio, Miryam M; Lemos, Roberta R; Ferreira, Joana J; Legati, Andrea A; Sears, Renee Louise RL; Hsu, Sandy Chan SC; Panteghini, Celeste C; Magistrelli, Luca L; Salsano, Ettore E; Esposito, Silvia S; Taroni, Franco F; Richard, Anne-Claire AC; Tranchant, Christine C; Anheim, Mathieu M; Ayrignac, Xavier X; Goizet, Cyril C; Vidailhet, Marie M; Maltete, David D; Wallon, David D; Frebourg, Thierry T; Pimentel, Lylyan L; Geschwind, Daniel H DH; Vanakker, Olivier O; Galasko, Douglas D; Fogel, Brent L BL; Innes, A Micheil AM; Ross, Alison A; Dobyns, William B WB; Alcantara, Diana D; O'Driscoll, Mark M; Hannequin, Didier D; Campion, Dominique D; , ; Oliveira, João R JR; Garavaglia, Barbara B; Coppola, Giovanni G; Nicolas, Gaël G

Publication Date: 2018-10

Variant appearance in text: PDGFB: 724T>C

PubMed Link: 29955172

Variant Present in the following documents:

• Main text

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