# Saethre-Chotzen syndrome

> acrocephalosyndactylia that has material basis in a genetic mutation in the TWIST1 gene which results in premature fusion located in skull

**Wikidata**: [Q3508686](https://www.wikidata.org/wiki/Q3508686)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Saethre–Chotzen_syndrome)  
**Source**: https://4ort.xyz/entity/saethre-chotzen-syndrome


## References

1. Disease Ontology
2. Freebase Data Dumps. 2013
3. Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation
4. Mutations of the TWIST gene in the Saethre-Chotzen syndrome
5. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome
6. Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)