Cargando…

Defining the Spectrum, Treatment and Outcome of Patients With Genetically Confirmed Gorlin Syndrome From the HIT-MED Cohort

Gorlin syndrome is a genetic condition associated with the occurrence of SHH activated medulloblastoma, basal cell carcinoma, macrocephaly and other congenital anomalies. It is caused by heterozygous pathogenic variants in PTCH1 or SUFU. In this study we included 16 patients from the HIT2000, HIT200...

Descripción completa

Detalles Bibliográficos
Autores principales: Kloth, Katja, Obrecht, Denise, Sturm, Dominik, Pietsch, Torsten, Warmuth-Metz, Monika, Bison, Brigitte, Mynarek, Martin, Rutkowski, Stefan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8649840/
https://www.ncbi.nlm.nih.gov/pubmed/34888241
http://dx.doi.org/10.3389/fonc.2021.756025