Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion

BACKGROUND: Recent studies have suggested that individual variants do not sufficiently explain the variable expressivity of phenotypes observed in complex disorders. For example, the 16p12.1 deletion is associated with developmental delay and neuropsychiatric features in affected individuals, but is...

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Detalles Bibliográficos
Autores principales: Jensen, Matthew, Tyryshkina, Anastasia, Pizzo, Lucilla, Smolen, Corrine, Das, Maitreya, Huber, Emily, Krishnan, Arjun, Girirajan, Santhosh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522054/
https://www.ncbi.nlm.nih.gov/pubmed/34657631
http://dx.doi.org/10.1186/s13073-021-00982-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522054/
https://www.ncbi.nlm.nih.gov/pubmed/34657631
http://dx.doi.org/10.1186/s13073-021-00982-z

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