Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
Laura Pignata, Francesco Cecere, Ankit Verma, Bruno Hay Mele, Maria Monticelli, Basilia Acurzio, Carlo Giaccari, Angela Sparago, José Ramón Hernández Mora, Ana Monteagudo, Manel Esteller, Arrate Pereda, Jair Tenorio, Orazio Palumbo, Massimo Carella, Paolo Prontera, Carmelo Piscopo, Maria Accadia, Pablo Lapunzina, Maria Vittoria Cubellis, Guiomar Pérez de Nanclares, David Monk, Andrea Riccio, Flavia Cerrato (2022). Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances. , 14(1), DOI: https://doi.org/10.1186/s13148-022-01292-w.