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Case Report of Proliferative Peripheral Retinopathy in Two Familial Lissencephaly Infants with Miller–Dieker Syndrome
A complete ophthalmic examination is not routinely performed on infants with Miller–Dieker syndrome (MDS, chromosome 17p13.3 microdeletion). The authors present the cases of four cousins with MDS who also carried a 16p13.3 microduplication (not associated with Rubinstein–Taybi syndrome). Retinopathy...
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| Publicat a: | J Pediatr Genet |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Georg Thieme Verlag KG
2018
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| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5916799/ https://ncbi.nlm.nih.gov/pubmed/29707411 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0037-1612638 |
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