CUGC for syndromic microphthalmia including next-generation sequencing-based approaches.

Eintracht, Jonathan

CUGC for syndromic microphthalmia including next-generation sequencing-based approaches. [electronic resource] - European journal of human genetics : EJHG 05 2020 - 679-690 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1476-5438

10.1038/s41431-019-0565-4 doi


Genetic Loci
Genetic Testing--methods
High-Throughput Nucleotide Sequencing--methods
Humans
Microphthalmos--diagnosis
Mutation
Sensitivity and Specificity
Sequence Analysis, DNA--methods