SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

Mendelian disorders of the epigenetic machinery (MDEMs), also named chromatin modifying disorders, are a broad group of neurodevelopmental disorders, caused by mutations in functionally related chromatin genes. Mental retardation autosomal dominant 23 (MRD23) syndrome, due to SETD5 gene mutations, f...

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Detalles Bibliográficos
Autores principales: Crippa, Milena, Bestetti, Ilaria, Maitz, Silvia, Weiss, Karin, Spano, Alice, Masciadri, Maura, Smithson, Sarah, Larizza, Lidia, Low, Karen, Cohen, Lior, Finelli, Palma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393934/
https://www.ncbi.nlm.nih.gov/pubmed/32793091
http://dx.doi.org/10.3389/fneur.2020.00631

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393934/
https://www.ncbi.nlm.nih.gov/pubmed/32793091
http://dx.doi.org/10.3389/fneur.2020.00631

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