Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease

Por Masliah-Planchon, Julien, Dupont, Céline, Vartzelis, George, Trimouille, Aurélien, Eymard-Pierre, Eléonore, Gay-Bellile, Mathilde, Renaldo, Florence, Dorboz, Imen, Pagan, Cécile, Quentin, Samuel, Elmaleh, Monique, Kotsogianni, Christina, Konstantelou, Elissavet, Drunat, Séverine, Tabet, Anne-Claude, Boespflug-Tanguy, Odile
Publicado no BMC Med Genet (2015)