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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Brain Sci
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: MDPI 2020
Gaiak:
Opinion
Sarrera elektronikoa: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
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak