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Updated: Dec 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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Coffin-Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B

Takako Fujita1, Yukiko Ihara1, Hitomi Hayashi1

  • 1Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.

Congenital Anomalies
|July 4, 2020
PubMed

Keywords:
ARID1BCoffin-Siris syndromeexonic deletionmacular dysplasia

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