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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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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