Made by DATEXIS (Data Science and Text-based Information Systems) at Beuth University of Applied Sciences Berlin
Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
Kosaki overgrowth syndrome (KOGS) is a rare (27 cases reported by 2017) syndrome caused by mutations in the PDGFRB gene.
The features of this syndrome affect the face, skin, brain and the body.
Face:
- downslanting palpebral fissures
- pointed chin
- prominent forehead
- proptosis
- thin upper lip
- wide nasal bridge
Skin:
- fragile
- hyperelastic
Brain:
- Low IQ
- Periventricular white matter lesions
Body:
The height, lower-segment, hand, and foot length are all greater than usual.