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trichorhinophalangeal syndrome

Genetics: - genetically heterogeneous - associated with defects in Trps1, EXT2

Specific

trichorhinophalangeal syndrome type 1 trichorhinophalangeal syndrome type 2 (Langer-Giedion syndrome) trichorhinophalangeal syndrome type 3

General

genetic syndrome (multisystem disorder)

References

  1. OMIM :accession 604386
  2. OMIM :accession 150230
  3. OMIM :accession 190351