Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum

Microphthalmia, anophthalmia, and coloboma (MAC) are a group of congenital eye anomalies that can affect one or both eyes. Patients can present one or a combination of these ocular abnormalities in the so called “MAC spectrum”. The KIF17 gene encodes the kinesin-like protein Kif17, a microtubule-bas...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Int J Mol Sci
Egile Nagusiak: Riva, Antonella, Gambadauro, Antonella, Dipasquale, Valeria, Casto, Celeste, Ceravolo, Maria Domenica, Accogli, Andrea, Scala, Marcello, Ceravolo, Giorgia, Iacomino, Michele, Zara, Federico, Striano, Pasquale, Cuppari, Caterina, Di Rosa, Gabriella, Cutrupi, Maria Concetta, Salpietro, Vincenzo, Chimenz, Roberto
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: MDPI 2021
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC8123208/
https://ncbi.nlm.nih.gov/pubmed/33922911
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22094471
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak