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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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Main Authors: Mester, Jessica L., Eng, Charis
Format: Artigo
Jezik:Inglês
Izdano: 2012
Teme:
Online dostop: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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