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trichorhinophalangeal syndrome type 2 (Langer-Giedion syndrome)
Genetics:
- associated defects in EXT1 & TRPS1
- contiguous gene syndrome due to deletions in chromosome 8q24.1 & resulting in the loss of functional copies of EXT1 & TRPS1
Related
zinc finger transcription factor Trps1; tricho-rhino-phalangeal syndrome type I protein; zinc finger protein GC79 (TRPS1)
General
trichorhinophalangeal syndrome
Database Correlations
OMIM 150230
References
OMIM :accession 150230