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brachydactyly type A2
Pathology:
- functions as dominant negative
Genetics:
- autosomal dominant
- associated with defects in BMPR1B
- associated with defects in GDF5
Clinical manifestations:
- brachydactyly
Notes:
- first described in a large Norwegian kindred
General
brachydactyly type A
Database Correlations
OMIM 112600
References
OMIM :accession 113200