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
40158061 (PubMed )
Supplement: 41431_2025_1839_MOESM1_ESM.docx
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays.
Jurgens JA et al.
Investigative Ophthalmology & Visual Science, 2025
40162949 (PubMed )
Supplement: iovs-66-3-62_s002.xlsx › Supp_Table1
Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays.
Jurgens JA et al.
Biorxiv : the Preprint Server for Biology, 2024
39314366 (PubMed )
Supplement: media-2.xlsx › Supp_Table1
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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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