- Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription
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Sweatt JD
- KMID: 2154240
- Exp Mol Med.
- 2013 May;45(5):e21.
TCF4 (transcription factor 4; E2-2, ITF2) is a transcription factor that when haplo-insufficient causes Pitt-Hopkins Syndrome (PTHS), an autism-spectrum disorder that is associated with pervasive developmental delay and severe intellectual... -
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- Clinicopathological features of Xp11.2 translocation renal cell carcinoma
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Lim B, You D, Jeong IG, Kwon T, Hong S, Song C, Cho YM, Hong B, Hong JH, Ahn H, Kim CS
- KMID: 2133289
- Korean J Urol.
- 2015 Mar;56(3):212-217.
- doi: 10.4111/kju.2015.56.3.212
PURPOSE: Xp11.2 translocation renal cell carcinoma (RCC) is characterized by various translocations of the TFE3 transcription factor gene. These rare cancers occur predominantly in children and young adults. Here, we... -
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