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split-hand/foot malformation 3 (SHFM3)

Genetics: - autosomal dominant - associated with defects in FBXW4 Clinical manifestations: - hypoplasia/aplasia of the central digits with fusion of the remaining digits

General

split-hand/foot malformation

Database Correlations

OMIM 600095

References

  1. OMIM :accession 600095
  2. UniProt :accession P57775