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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Detalhes bibliográficos
Publicado no:Brain Sci
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Opinion
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7408450/
https://ncbi.nlm.nih.gov/pubmed/32679641
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/brainsci10070451
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