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An Entity of Type : owl:Axiom, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

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  • A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25.
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  • url:https://www.ncbi.nlm.nih.gov/pubmed/28917830
  • url:https://www.omim.org/entry/228930
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