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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Springer Netherlands
2021
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| 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 |