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spondylocostal dysostosis type 2

heterogeneous group of disorders Genetics: - type 2 autosomal recessive, associated with defects in MESP2 Clinical manifestations: - abnormal vertebral segmentation - ribs are frequently malaligned, with points of fusion & somtetimes a diminished number

General

spondylocostal dysostosis

Database Correlations

OMIM 608681

References

  1. UniProt :accession Q0VG99
  2. OMIM :accession 608681