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CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene |
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| Authors: | Keren Boris Suzuki Oscar T Gérard-Blanluet Marion Brémond-Gignac Dominique Elmaleh Monique Titomanlio Luigi Delezoide Anne-Lise Passos-Bueno Maria Rita Verloes Alain |
| Affiliation: | Clinical Genetic Unit, Department of Medical Genetics, APHP, Robert Debré University Hospital, 48 boulevard Serurier, 75019 Paris, France. |
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| 本文献已被 PubMed 等数据库收录！ | |