# Genetic complexity underlies clinical heterogeneity: YWTD β-propeller mutations and second-hit modifier mutations in LRP6-related tooth agenesis and ectodermal dysplasia in human

**Authors:** Xinxin Dong, Miao Yu, Zhaoyang Jia, Jinye Bai, Jing Zhang, Shengnan Ling, Limin Guan, Yi Lu, Dong Han, Xiwen Gu

PMC · DOI: 10.1016/j.gendis.2025.101541 · 2025-01-22

## Full-text entities

- **Genes:** LRP6 (LDL receptor related protein 6) [NCBI Gene 4040] {aka ADCAD2, EVR8, OPTA4, STHAG7}
- **Diseases:** tooth agenesis (MESH:D000848), ectodermal dysplasia (MESH:D004476)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12275974/full.md

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Source: https://tomesphere.com/paper/PMC12275974