A novel PTCH1 non-canonical splice region variant associated with Gorlin syndrome: case report
We used cDNA analysis to provide additional evidence to allow re-classification of the non-canonical splice variant and provide a formal genetic diagnosis that can also be used for family planning and to screen at-risk relatives.
Authors
- Alan J. Hakim (ORCID: https://orcid.org/0000-0001-7170-1697)
- George J. Burghel (ORCID: https://orcid.org/0000-0001-9360-8194)
- Miriam J. Smith (ORCID: https://orcid.org/0000-0002-3184-0817)
- D. Gareth Evans (ORCID: https://orcid.org/0000-0002-8482-5784)
- Megan Carney (ORCID: https://orcid.org/0009-0004-6695-906X)
- Sarah Waller
- Emily-Jayne Shell
Institutions
- Manchester Academic Health Science Centre (GB)
- London Clinic (GB)
- University of Manchester (GB)
- St Mary's Hospital (GB)
- Genomics (United Kingdom) (GB)
- University College London (GB)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-03-24
- DOI
- https://doi.org/10.1159/000545453
- Primary Topic
- Hedgehog Signaling Pathway Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00