A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay

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 harbori...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Ueno, Yuichi, Enokizono, Takashi, Fukushima, Hiroko, Ohto, Tatsuyuki, Imagawa, Kazuo, Tanaka, Mai, Sakai, Aiko, Suzuki, Hisato, Uehara, Tomoko, Takenouchi, Toshiki, Kosaki, Kenjiro, Takada, Hidetoshi
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6531540/
https://ncbi.nlm.nih.gov/pubmed/31149344
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0056-8
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