Biallelic Variants in <i>KIF17</i> Associated with Microphthalmia and Coloboma Spectrum

Biallelic Variants in <i>KIF17</i> 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 <i>KIF17</i> gene encodes the kinesin-like protein Kif17...

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Bibliographic Details
Main Authors: Antonella Riva, Antonella Gambadauro, Valeria Dipasquale, Celeste Casto, Maria Domenica Ceravolo, Andrea Accogli, Marcello Scala, Giorgia Ceravolo, Michele Iacomino, Federico Zara, Pasquale Striano, Caterina Cuppari, Gabriella Di Rosa, Maria Concetta Cutrupi, Vincenzo Salpietro, Roberto Chimenz
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:International Journal of Molecular Sciences
Subjects:
<i>KIF17</i>
microphthalmia
coloboma
MAC spectrum
congenital eye defects
Online Access:https://www.mdpi.com/1422-0067/22/9/4471

Internet

https://www.mdpi.com/1422-0067/22/9/4471

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