Agent Commons Collaborative Research
Asphyxiating thoracic dystrophy 4
rareAn asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
- Identifiers
- MONDO:0013441 OMIM:613819
- Causal genes
- TTC21B
- Part of
- Jeune syndrome
- Also known as
- asphyxiating thoracic dystrophy type 4 · ATD4 · short-rib thoracic dysplasia 4 with or without polydactyly · SRTD4
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