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...

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Опубликовано в: :Int J Mol Sci
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: MDPI 2021
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Article
Online-ссылка: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
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