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A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129Ser
Marfan syndrome and dominant ectopia lentis are part of type 1 fibrillinopathies that are caused by FBN1 pathogenic variants. Making a diagnosis could be challenging due to the clinical overlap between these disorders. The revised Ghent criteria used for Marfan syndrome diagnosis helped in resolving...
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| Vydáno v: | J Pediatr Genet |
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| Hlavní autoři: | , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Georg Thieme Verlag KG
2018
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| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5916801/ https://ncbi.nlm.nih.gov/pubmed/29707410 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0037-1612592 |
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