A novel missense <i>PTEN</i> mutation identified in a patient with macrocephaly and developmental delay.

Ueno, Yuichi; Enokizono, Takashi; Fukushima, Hiroko; Ohto, Tatsuyuki; Imagawa, Kazuo; Tanaka, Mai; Sakai, Aiko; Suzuki, Hisato; Uehara, Tomoko; Takenouchi, Toshiki; Kosaki, Kenjiro; Takada, Hidetoshi

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

Ueno, Yuichi; Enokizono, Takashi; Fukushima, Hiroko; Ohto, Tatsuyuki; Imagawa, Kazuo; Tanaka, Mai; Sakai, Aiko; Suzuki, Hisato; Uehara, Tomoko; Takenouchi, Toshiki; Kosaki, Kenjiro; Takada, Hidetoshi.

Afiliação

Ueno Y; 1Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan.
Enokizono T; 1Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan.
Fukushima H; 1Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan.
Ohto T; 2Department of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
Imagawa K; 1Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan.
Tanaka M; 2Department of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
Sakai A; 1Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan.
Suzuki H; 1Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan.
Uehara T; 1Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan.
Takenouchi T; 3Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Kosaki K; 3Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Takada H; 3Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.