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Updated: Sep 9, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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A Novel PTCH1 Non-Canonical Splice Region Variant Associated with Gorlin Syndrome: A Case Report

Miriam J Smith1,2, Emily-Jayne Shell1,2, George J Burghel1,3

  • 1Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Foundation NHS Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

Molecular Syndromology
|August 29, 2025
PubMed
Abstract

Keywords:
Basal cell carcinomaEhlers-danlos syndromeGorlin syndromeKeratocystPTCH1

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