- 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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- A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome
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Lim JH, Seo EJ, Kim YM, Cho HJ, Lee JO, Cheon CK, Yoo HW
- KMID: 1791956
- Ann Lab Med.
- 2014 Sep;34(5):390-394.
- doi: 10.3343/alm.2014.34.5.390
KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay, distinctive craniofacial features, short stature, and skeletal anomalies. Ankyrin repeat domain 11... -
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