De Novo 1q21.3q22 Duplication Revaluation in a “Cold” Complex Neuropsychiatric Case with Syndromic Intellectual Disability

Syndromic intellectual disability often obtains a genetic diagnosis due to the combination of first and next generation sequencing techniques, although their interpretation may require revaluation over the years. Here we report on a composite neuropsychiatric case whose phenotype includes moderate i...

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Detalles Bibliográficos
Autores principales: Milone, Roberta, Scalise, Roberta, Pasquariello, Rosa, Berloffa, Stefano, Ricca, Ivana, Battini, Roberta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8066010/
https://www.ncbi.nlm.nih.gov/pubmed/33807234
http://dx.doi.org/10.3390/genes12040511

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8066010/
https://www.ncbi.nlm.nih.gov/pubmed/33807234
http://dx.doi.org/10.3390/genes12040511

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