Art

J-GLOBAL ID：201902225530496530   Reference number：19A1796640

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

巨頭症および発育遅延患者において特定された新規ミスセンスPTEN変異

Author (15)： UENO Yuichi (Univ. Tsukuba Hospital, Tsukuba, JPN) ,  ENOKIZONO Takashi (Univ. Tsukuba Hospital, Tsukuba, JPN) ,  FUKUSHIMA Hiroko (Univ. Tsukuba Hospital, Tsukuba, JPN) ,  FUKUSHIMA Hiroko (Univ. Tsukuba, Tsukuba, JPN) ,  OHTO Tatsuyuki (Univ. Tsukuba Hospital, Tsukuba, JPN) ,  OHTO Tatsuyuki (Univ. Tsukuba, Tsukuba, JPN) ,  IMAGAWA Kazuo (Univ. Tsukuba Hospital, Tsukuba, JPN) ,  TANAKA Mai (Univ. Tsukuba Hospital, Tsukuba, JPN) ,  SAKAI Aiko (Univ. Tsukuba Hospital, Tsukuba, JPN) ,  SUZUKI Hisato (Keio Univ. School of Medicine, Tokyo, JPN) ,  UEHARA Tomoko (Keio Univ. School of Medicine, Tokyo, JPN) ,  TAKENOUCHI Toshiki (Keio Univ. School of Medicine, Tokyo, JPN) ,  KOSAKI Kenjiro (Keio Univ. School of Medicine, Tokyo, JPN) ,  TAKADA Hidetoshi (Univ. Tsukuba Hospital, Tsukuba, JPN) ,  TAKADA Hidetoshi (Univ. Tsukuba, Tsukuba, JPN)
Material： Human Genome Variation (Web)
Volume： 6  Issue： May  Page： WEB ONLY  Publication year： May. 2019 
JST Material Number： U1014A  ISSN： 2054-345X  Document type： Article
Article type： 短報  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Thesaurus term： *abnormality ,...
Semi thesaurus term： *Macrocephaly ,...

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JST classification (1)： Diagnostics of congenital diseases, deformities.  (GD03020G)

Terms in the title (5)： 巨頭症 ,  発育遅延 ,  患者 ,  PTEN ,  変異