Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
41327266 (PubMed )
Supplement: 13024_2025_907_MOESM2_ESM.pdf
CDON Mutation Related to Nose Deformity with Variable Expression in Holoprosencephaly in an Iranian Family: A Case Report.
Farhud DD et al.
Iranian Journal of Public Health, 2024
CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy.
Obara-Moszyńska M et al.
Journal of Applied Genetics, 2021
Compound heterozygous splicing CDON variants result in isolated ocular coloboma.
Reis LM et al.
Clinical Genetics, 2020
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
Hedgehog receptor function during craniofacial development.
Xavier GM et al.
Developmental Biology, 2016
Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.
Bae GU et al.
American Journal of Human Genetics, 2011
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