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split-hand/foot malformation 4 (SHFM4)

Pathology: - limb malformation involving the central rays of the autopod Genetics: - associated with defects in TP63 - restricted overlap between the mutational spectra of EEC3 & SHFM4 Clinical manifestations: - presents with syndactyly, median clefts of the hands & feet, & aplasia &/or hypoplasia of the phalanges, metacarpals, & metatarsals

General

split-hand/foot malformation

Database Correlations

OMIM 605289

References

  1. OMIM :accession 605289
  2. UniProt :accession Q9H3D4