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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...

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Detalhes bibliográficos
Main Authors: Mester, Jessica L., Eng, Charis
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha: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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