De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review

Duplications of chromosome 8p lead to rare genetic conditions characterized by variable phenotypes. 8p21 and 8p23 duplications were associated with mental retardation but only 8p23 duplication was associated with heart defects. 8p22→ p21.3 duplications were associated with an autism spectrum disorde...

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Detalles Bibliográficos
Autores principales: Gug, Cristina, Stoicanescu, Dorina, Mozos, Ioana, Nussbaum, Laura, Cevei, Mariana, Stambouli, Danae, Pavel, Anca Gabriela, Doros, Gabriela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7362762/
https://www.ncbi.nlm.nih.gov/pubmed/32733829
http://dx.doi.org/10.3389/fped.2020.00375

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7362762/
https://www.ncbi.nlm.nih.gov/pubmed/32733829
http://dx.doi.org/10.3389/fped.2020.00375

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