Associated Papers
Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.
Harms FL et al.
European Journal of Human Genetics : Ejhg, 2025
Congenital Fibrosis of the Extraocular Muscles: An Overview from Genetics to Management.
Xia W et al.
Children (basel, Switzerland), 2022
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Natera-de Benito D et al.
Human Mutation, 2022
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