A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke

por Greisenegger, Elli Katharine, Llufriu, Sara, Chamorro, Angel, Cervera, Alvaro, Jimenez-Escrig, Adriano, Rappersberger, Klemens, Marik, Wolfgang, Greisenegger, Stefan, Stögmann, Elisabeth, Kopp, Tamara, Strom, Tim M., Henes, Jörg, Joutel, Anne, Zimprich, Alexander
Publicado 2020