Jan 2026
PTCH1-Related Gorlin Syndrome: Expanding the Clinical and Molecular Spectrum in a Cohort of 11 Patients
Molecular confirmation of the diagnosis of Gorlin syndrome is important for the provision of genetic counselling, consideration of preimplantation genetic diagnosis, and appropriate patient follow-up and treatment planning.
Ayşe Burcu Doğan Arı, Büşra Çavdarlı, Gülay Güleç Ceylan et al.
· Klinische Pädiatrie · 0 citations