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Updated: Oct 16, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population

Songshan Li1, You Wang1, Limei Sun1

  • 1State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510000, China.

Genes
|October 23, 2021
PubMed

Keywords:
COL18A1Knobloch syndromemacular dysplasiawhole exon sequencing

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