Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion

The 8p inverted duplication/deletion is a rare chromosomal rearrangement clinically featuring neurodevelopmental delay, mild to severe cognitive impairment, heart congenital defects and brain abnormalities. Patients affected also present typical facial dysmorphisms and skeletal malformations, and it...

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Detalles Bibliográficos
Autores principales: Lo Bianco, Manuela, Vecchio, Davide, Timpanaro, Tiziana A., Arena, Alessia, Macchiaiolo, Marina, Bartuli, Andrea, Sciuto, Laura, Presti, Santiago, Sciuto, Sarah, Sapuppo, Annamaria, Fiumara, Agata, Marino, Lidia, Messina, Giulia, Pavone, Piero
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Opinion
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408450/
https://www.ncbi.nlm.nih.gov/pubmed/32679641
http://dx.doi.org/10.3390/brainsci10070451

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408450/
https://www.ncbi.nlm.nih.gov/pubmed/32679641
http://dx.doi.org/10.3390/brainsci10070451

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