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Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome
Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases. Especially cardiovascular system disorders (aortic root dilatation and enlargement of the pulmonary artery) may be life-threatening. We...
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| Published in: | Glob Med Genet |
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| Main Authors: | , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
Georg Thieme Verlag KG
2020
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| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7490121/ https://ncbi.nlm.nih.gov/pubmed/32939518 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0040-1714092 |
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