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
A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.
Fu Y et al.
Molecular Genetics & Genomic Medicine, 2024
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.
Masingue M et al.
Scientific Reports, 2023
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome.
Khan H et al.
Journal of Human Genetics, 2022
Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis.
Huybrechts Y et al.
Genes, 2021
Cenani-Lenz syndrome and other related syndactyly disorders due to variants in LRP4, GREM1/FMN1, and APC: Insight into the pathogenesis and the relationship to polyposis through the WNT and BMP antagonistic pathways.
Al-Qattan MM et al.
American Journal of Medical Genetics. Part A, 2019
Deficiency of lrp4 in zebrafish and human LRP4 mutation induce aberrant activation of Jagged-Notch signaling in fin and limb development.
Tian J et al.
Cellular and Molecular Life Sciences : Cmls, 2019
Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.
Sukenik Halevy R et al.
Human Mutation, 2018
Advances in the Molecular Genetics of Non-syndromic Syndactyly.
Deng H et al.
Current Genomics, 2015
Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation.
Khan TN et al.
European Journal of Medical Genetics, 2013
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