Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

Coloboma and microphthalmia (C/M) are related congenital eye malformations, which can cause significant visual impairment. Molecular diagnosis is challenging as the genes associated to date with C/M account for only a small percentage of cases. Overall, the genetic cause remains unknown in up to 80%...

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Bibliographic Details
Main Authors: Patricia Haug, Samuel Koller, Jordi Maggi, Elena Lang, Silke Feil, Agnès Wlodarczyk, Luzy Bähr, Katharina Steindl, Marianne Rohrbach, Christina Gerth-Kahlert, Wolfgang Berger
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:Genes
Subjects:
whole-exome sequencing
microphthalmia
coloboma
genetic screening
MAC
ocular development
Online Access:https://www.mdpi.com/2073-4425/12/1/65

Internet

https://www.mdpi.com/2073-4425/12/1/65

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