De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment D.M. Fernández-Mayoralas; B. Calleja-Pérez; S. Álvarez; A. Fernández-Jaén;

Periventricular heterotopia: broadening of the clinical spectrum of the clathrin 1 gene (CLTC) pathogenic variants D. Martín Fernández-Mayoralas; N. Muñoz Jareño; A. Alba Menéndez; A. Fernández-Jaén;

Jansen-de Vries syndrome. First case diagnosed in Spain D. Martín Fernández-Mayoralas; A.L. Fernández-Perrone; A. Jiménez De Domingo; A. Alba Menéndez; A. Fernández-Jaén;