Llwytho...
Estimate of de novo mutation frequency in probands with PTEN Hamartoma Tumor syndrome
PURPOSE: PTEN Hamartoma Tumor Syndrome (PHTS) is an autosomal dominant disorder with increased risks of neoplasias, macrocephaly, and developmental disabilities. While both familial and sporadic cases exist, actual de novo mutation frequency remains unknown. We sought to estimate this within our PTE...
Wedi'i Gadw mewn:
| Prif Awduron: | , |
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| Fformat: | Artigo |
| Iaith: | Inglês |
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2012
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3651836/ https://ncbi.nlm.nih.gov/pubmed/22595938 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2012.51 |
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