DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

References

Schüle B, Oviedo A, Johnston K, Pai S, Francke U.
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

Am J Hum Genet 2005;
77 (06) 1117-1128

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