| Project/Area Number |
22790972
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Shinshu University |
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Principal Investigator |
NARUMI Yoko 信州大学, 医学部, 助教 (60523074)
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| Project Period (FY) |
2010 – 2011
|
| Project Status |
Completed (Fiscal Year 2011)
|
| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2011: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2010: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
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| Keywords | パリスターホール症候群 / 視床下部過誤腫 / 多指症 / 外性器異常 |
|---|
| Research Abstract |
Pallister-Hall syndrome(PHS) is a rare congenital disorder, characterized by hypothalamic hamartome, and polydactyly. We performed molecular genetics analysis and investigated clinical manifestations in Japanese patients with PHS. In this study, we aimed to establish clinical presentation of PHS in Japan. GLI3 mutation-positive patients, including women without hypopituitarism had urogenital abnormalities. These result suggested that urogenital abnormalities in PHS have little association with hypopituitarism. The present study showed that clinical investigation of urogenital abnormalities are considered in patients with PHS, even those without hypopituitarism and GLI3 gene might be related to urogenital development.
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