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Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model

PTEN Hamartoma Tumour Syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), and other conditions resulting from germline mutation of the PTEN tumour suppressor gene. Although macrocephaly, presumably due to megencephaly, is found in both CS and BRRS, the prevalence...

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Detalhes bibliográficos
Main Authors: Mester, Jessica L, Tilot, Amanda K, Rybicki, Lisa A, Frazier, Thomas W, Eng, Charis
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3137495/
https://ncbi.nlm.nih.gov/pubmed/21343951
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.20
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