Article
Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood.
Brain & development - 1 Sept 2018
Kato Kohji, Mizuno Seiji, Inaba Mie, Fukumura Shinobu, Kurahashi Naoko, Maruyama Koichi, Ieda Daisuke, Ohashi Kei, Hori Ikumi, Negishi Yutaka, Hattori Ayako, Saitoh Shinji
Abstract excerpt
BACKGROUND: Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood. Nevertheless, because of limited information, the clinical features present during childhood in patients with a PTEN mutation are yet to be...
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