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
Abstract
RAPADILINO syndrome is an autosomal recessive disorder characterized by:
- RA: radial ray defect
- PA: patellar aplasia, arched or cleft palate
- DI: diarrhea, dislocated joints
- LI: little size (short stature), limb malformation
- NO: nose slender and normal intelligence.
It is more prevalent in Finland than elsewhere in the world.
It has been associated with the gene RECQL4. This is also associated with Rothmund-Thomson syndrome and Baller-Gerold syndrome.