# Hearing loss and small and large fibre neuropathy associated with the heterozygous variants c.20A>T in HBB and del-3.7 in HBA

**Authors:** Josef Finsterer, Fulvio A. Scorza, Carla A. Scorza, Ana C. Fiorini

PMC · DOI: 10.1016/j.clinsp.2025.100597 · Clinics · 2025-02-28

## Full-text entities

- **Genes:** KRT90P (keratin 90, pseudogene) [NCBI Gene 85340] {aka HBA, KRT124P, KRTHBP1}, HBB (hemoglobin subunit beta) [NCBI Gene 3043] {aka CD113t-C, ECYT6, beta-globin}
- **Diseases:** small and large fibre neuropathy (MESH:D000071075), Hearing loss (MESH:D034381)
- **Mutations:** c.20A>T

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC11919306/full.md

## References

9 references — full list in the complete paper: https://tomesphere.com/paper/PMC11919306/full.md

---
Source: https://tomesphere.com/paper/PMC11919306