Publication
| Schüle B, Oviedo A, Johnston K, Pai S, Francke U, Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation American journal of human genetics77:1117-28 2005 |
| PubMed ID: 16380922 |
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| Records Return:
(2)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM21872 | Female | 25 FW | 2737 | proband | ROBERTS SYNDROME; RBS | GM |
| GM21873 | Female | 20 FW | | proband | ROBERTS SYNDROME; RBS | GM |
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