Cargando…
Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review
BACKGROUND: Townes-Brocks syndrome is a rare autosomal dominant genetic syndrome caused by mutations in SALL1. The clinical features of Townes-Brocks syndrome are highly heterogonous. Identification of new SALL1 mutations and study of the relation between SALL1 mutations and clinical features can fa...
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2023
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10466882/ https://www.ncbi.nlm.nih.gov/pubmed/37644569 http://dx.doi.org/10.1186/s13023-023-02874-4 |