Associated Papers
LRP6 β-Propeller Destabilization: Novel Variant, Phenotype and Diagnostic Implications in Tooth Agenesis.
Intarak N et al.
International Dental Journal, 2026
Genetic complexity underlies clinical heterogeneity: YWTD β-propeller mutations and second-hit modifier mutations in LRP6-related tooth agenesis and ectodermal dysplasia in human.
Dong X et al.
Genes & Diseases, 2025
Genotype-phenotype analysis and functional study of three novel LRP6 variants in non-syndromic oligodontia.
Yuan Y et al.
Frontiers in Genetics, 2025
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
36823319 (PubMed )
Supplement: EMS163741-supplement-Supplementary_Data_3.xlsx › ClinVar_evidence
Novel LRP6 Mutations Causing Non-Syndromic Oligodontia.
Lee Y et al.
Journal of Personalized Medicine, 2022
Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis.
Chu KY et al.
Journal of Personalized Medicine, 2021
34834569 (PubMed )
Supplement: jpm-11-01217-s001.zip › jpm-1475506-supplementary.pdf
Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans.
Zhang L et al.
Npj Genomic Medicine, 2021
34759310 (PubMed )
Supplement: 41525_2021_262_MOESM1_ESM.pdf
A novel missense mutation of LRP6 identified by whole-exome sequencing in a Chinese family with non-syndromic tooth agenesis.
Wang H et al.
Orthodontics & Craniofacial Research, 2021
Investigation of a Novel LRP6 Variant Causing Autosomal-Dominant Tooth Agenesis.
Huang YX et al.
Frontiers in Genetics, 2021
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.
Basha M et al.
Journal of Medical Genetics, 2018
The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.
Williams MA et al.
Genes, 2018
Role of the Wnt signaling molecules in the tooth.
Tamura M et al.
The Japanese Dental Science Review, 2016
Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.
Massink MP et al.
American Journal of Human Genetics, 2015
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