SC phocomelia syndrome
MIM.269000
SC pseudothlidomide syndrome
Etiology
SC phocomelia syndrome is caused by mutation in the ESCO2 gene (MIM.609353)
- ESCO2 protein product is required for the establishment of sister chromatid cohesion during S phase.
- germline mutations in the same gene cause Roberts syndrome (MIM.268300)
See also
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