Home > D. Systemic pathology > Genetic and developmental anomalies > SC phocomelia syndrome
SC phocomelia syndrome
MIM.269000
Thursday 19 January 2006
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
phocomelia
