PTCH2 is not a strong candidate gene for gorlin syndrome predisposition

A number of case/family reports have proposed PTCH2 as a putative Gorlin Syndrome (GS) gene, but evidence to support this is lacking. We assessed our cohort of 21 PTCH1/SUFU negative GS families for PTCH2 variants and assessed current evidence from reported cases/families and population data. In our...

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Detalles Bibliográficos
Autores principales: Smith, Miriam J., Evans, D. Gareth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2021
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9203365/
https://www.ncbi.nlm.nih.gov/pubmed/34170463
http://dx.doi.org/10.1007/s10689-021-00269-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9203365/
https://www.ncbi.nlm.nih.gov/pubmed/34170463
http://dx.doi.org/10.1007/s10689-021-00269-7

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