@article{oai:tsukuba.repo.nii.ac.jp:00054305,
 author = {福島, 紘子 and FUKUSHIMA, Hiroko and 大戸, 達之 and OHTO, Tatsuyuki and 高田, 英俊 and TAKADA, Hidetoshi and Ueno, Yuichi and Enokizono, Takashi and Imagawa, Kazuo and Tanaka, Mai and Sakai, Aiko and Suzuki, Hisato and Uehara, Tomoko and Takenouchi, Toshiki and Kosaki, Kenjiro},
 journal = {Human Genome Variation},
 month = {May},
 note = {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.},
 title = {A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay},
 volume = {6},
 year = {2019},
 yomi = {フクシマ, ヒロコ and オオト, タツユキ and タカダ, ヒデトシ}
}