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15 p, 1.1 MB 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 / Pignata, Laura (Università Degli Studi Della Campania "Luigi Vanvitelli") ; Cecere, Francesco (Università Degli Studi Della Campania "Luigi Vanvitelli") ; Verma, Ankit (Institute of Genetics and Biophysics (IGB)) ; Hay Mele, Bruno (Università Degli Studi Di Napoli "Federico II") ; Monticelli, Maria (Università Degli Studi Di Napoli "Federico II") ; Acurzio, Basilia (Institute of Genetics and Biophysics (IGB)) ; Giaccari, Carlo (Institute of Genetics and Biophysics (IGB)) ; Sparago, Angela (Università Degli Studi Della Campania "Luigi Vanvitelli") ; Hernandez Mora, José Ramon (Institut d'Investigació Biomèdica de Bellvitge) ; Monteagudo-Sánchez, Ana (Institut d'Investigació Biomèdica de Bellvitge) ; Esteller, M (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Pereda, Arrate (Araba University Hospital-Txagorritxu) ; Tenorio-Castano, Jair (ITHACA. European Reference Network) ; Palumbo, Orazio (Fondazione IRCCS "Casa Sollievo Della Sofferenza") ; Carella, Massimo (Fondazione IRCCS "Casa Sollievo Della Sofferenza") ; Prontera, Paolo (Medical Genetics Unit. University and Hospital of Perugia) ; Piscopo, Carmelo ("Antonio Cardarelli" Hospital) ; Accadia, Maria (Hospital "Cardinale G. Panico") ; Lapunzina, Pablo (ITHACA. European Reference Network) ; Cubellis, Maria Vittoria (Università Degli Studi Di Napoli "Federico II") ; Pérez de Nanclares, Guiomar (Araba University Hospital-Txagorritxu) ; Monk, David (University of East Anglia) ; Riccio, Andrea (Institute of Genetics and Biophysics (IGB)) ; Cerrato, Flavia (Università Degli Studi Della Campania "Luigi Vanvitelli") ; Universitat Autònoma de Barcelona
Background: Beckwith-Wiedemann syndrome (BWS) and Pseudohypoparathyroidism type 1B (PHP1B) are imprinting disorders (ID) caused by deregulation of the imprinted gene clusters located at 11p15. 5 and 20q13. [...]
2022 - 10.1186/s13148-022-01292-w
Clinical Epigenetics, Vol. 14 Núm. 1 (december 2022), p. 71  
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2 Monteagudo-Sánchez, A.
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