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

被引：0
作者：
Laura Pignata
Francesco Cecere
Ankit Verma
Bruno Hay Mele
Maria Monticelli
Basilia Acurzio
Carlo Giaccari
Angela Sparago
Jose Ramon Hernandez Mora
Ana Monteagudo-Sánchez
Manel Esteller
Arrate Pereda
Jair Tenorio-Castano
Orazio Palumbo
Massimo Carella
Paolo Prontera
Carmelo Piscopo
Maria Accadia
Pablo Lapunzina
Maria Vittoria Cubellis
Guiomar Perez de Nanclares
David Monk
Andrea Riccio
Flavia Cerrato
机构：
[1] Università Degli Studi Della Campania “Luigi Vanvitelli”,Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF)
[2] “Adriano Buzzati-Traverso”,Institute of Genetics and Biophysics (IGB)
[3] Consiglio Nazionale Delle Ricerche (CNR),Department of Biology
[4] Università Degli Studi Di Napoli “Federico II”,Cancer Epigenetic and Biology Program (PEBC), Imprinting and Cancer Group, Institut d’Investigació Biomedica de Bellvitge (IDIBELL)
[5] Avinguda Granvia,Physiological Sciences Department, School of Medicine and Health Sciences
[6] L’Hospitalet de Llobregat,Molecular (Epi)Genetics Laboratory, Rare Diseases Research Group, Bioaraba Health Research Institute
[7] Josep Carreras Leukeamia Research Institute,Institute of Medical and Molecular Genetics
[8] Centro de Investigacion Biomedica en Red Cancer (CIBERONC),Division of Medical Genetics
[9] Institucio Catalana de Recerca I Estudis Avançats (ICREA),Medical Genetics Unit
[10] University of Barcelona (UB),Medical and Laboratory Genetics Unit
[11] Araba University Hospital-Txagorritxu,Medical Genetics Service
[12] CIBERER,undefined
[13] Centro de Investigación Biomédica en Red de Enfermedades Raras,undefined
[14] INGEMM-Idipaz,undefined
[15] ITHACA,undefined
[16] European Reference Network,undefined
[17] Fondazione IRCCS “Casa Sollievo Della Sofferenza”,undefined
[18] University and Hospital of Perugia,undefined
[19] “Antonio Cardarelli” Hospital,undefined
[20] Hospital “Cardinale G. Panico”,undefined
[21] School of Biological Sciences,undefined
[22] University of East Anglia,undefined
来源：
Clinical Epigenetics | 2022年 / 14卷
关键词：
Multi-locus imprinting disturbance; Beckwith–Wiedemann syndrome; Pseudohypoparathyroidism; Genomic imprinting; DNA methylation; Maternal-effect variants; Subcortical maternal complex; Recurrent pregnancy loss; Infertility;
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