Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.
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| Title: | Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes. |
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| Authors: | Tritto V; Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Segrate, Milan, Italy., Bettinaglio P; Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Segrate, Milan, Italy., Mangano E; Institute for Biomedical Technologies (ITB), National Research Council (CNR), Segrate (Milan), Italy., Cesaretti C; Medical Genetics Unit, Woman-Child-Newborn Department, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy., Marasca F; Genome Biology Unit, Istituto Nazionale di Genetica Molecolare (INGM) 'Romeo ed Enrica Invernizzi', Milan, Italy., Castronovo C; Institute for Biomedical Technologies (ITB), National Research Council (CNR), Segrate (Milan), Italy., Bordoni R; Institute for Biomedical Technologies (ITB), National Research Council (CNR), Segrate (Milan), Italy., Battaglia C; Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Segrate, Milan, Italy.; Institute for Biomedical Technologies (ITB), National Research Council (CNR), Segrate (Milan), Italy., Saletti V; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Ranzani V; Genome Biology Unit, Istituto Nazionale di Genetica Molecolare (INGM) 'Romeo ed Enrica Invernizzi', Milan, Italy., Bodega B; Genome Biology Unit, Istituto Nazionale di Genetica Molecolare (INGM) 'Romeo ed Enrica Invernizzi', Milan, Italy.; Department of Biosciences (DBS), University of Milan, Milan, Italy., Eoli M; Molecular Neuroncology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Natacci F; Medical Genetics Unit, Woman-Child-Newborn Department, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy. federica.natacci@policlinico.mi.it., Riva P; Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Segrate, Milan, Italy. paola.riva@unimi.it. |
| Source: | Human genetics [Hum Genet] 2024 Jun; Vol. 143 (6), pp. 775-795. Date of Electronic Publication: 2024 Jun 14. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1432-1203 |
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| DOI: | 10.1007/s00439-024-02683-0 |
