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brachydactyly type A1
Pathology:
- functions as dominant negative
Genetics:
- autosomal dominant
- associated with defects in IHH
Clinical manifestations:
- brachydactyly
- middle phalanges of all digits rudimentary or fused with terminal phalanges
- proximal phalanges of thumbs & big toes are short
General
brachydactyly type A
Database Correlations
OMIM 112500
References
OMIM :accession 112500