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A Complex Case of Loeys-Dietz Syndrome: A Case Report and Review of the Literature
Loeys-Dietz syndrome is a rare autosomal dominant connective tissue disorder with a genetic predisposition to aneurysm formation and congenital cardiofacial defects through genetic mutation affecting the transforming growth factor-beta (TGFβ) signaling pathway. We present a case of a 6-year-old fema...
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| Publicado no: | Acad Forensic Pathol |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
SAGE Publications
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6474496/ https://ncbi.nlm.nih.gov/pubmed/31239945 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.23907/2016.069 |
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