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• W2944892899 abstract "Abstract Phosphatase and tensin homolog (PTEN) plays an important role in tumor suppression. A germline mutation in the PTEN gene induces not only PTEN hamartoma tumor syndrome, including Cowden syndrome, but also macrocephaly/autism syndrome. Here, we describe a boy with macrocephaly/autism syndrome harboring a novel missense heterozygous PTEN mutation, c.959T>C (p.Leu320Ser). Interestingly, a previously reported nonsense mutation resulting in p.Leu320X was found in Cowden syndrome patients. Our case may be suggestive of a genotype-phenotype correlation." @default.
• W2944892899 created "2019-05-29" @default.
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• W2944892899 date "2019-05-23" @default.
• W2944892899 modified "2023-10-13" @default.
• W2944892899 title "A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay" @default.
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• W2944892899 doi "https://doi.org/10.1038/s41439-019-0056-8" @default.
• W2944892899 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6531540" @default.
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