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Updated: Jan 13, 2026

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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A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia

Ozge Aksel Kilicarslan1,2, Andrea Gangfuß3, Andreas Hentschel4

  • 1Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.

Clinical Genetics
|January 7, 2026
PubMed

Keywords:
CPSF1congenital cataractshyperphagiaintellectual disabilitywhite blood cell proteomics

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