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tricho-rhino-phalangeal syndrome type 2
Genetics:
- chromosomal aberration involving TRPS1 is a cause of tricho-rhino-phalangeal syndrome type 2
- contiguous gene deletion syndrome due to deletions in chromosome 8q24.1 & resulting in the loss of functional copies of TRPS1 & EXT1
General
tricho-rhino-phalangeal syndrome
Database Correlations
OMIM 150230
References
OMIM :accession 150230