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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Vydáno v:Acad Forensic Pathol
Hlavní autoři: Caza, Tiffany N., Mercedes, Ana, Stoppacher, Robert, Catanese, Charles A.
Médium: Artigo
Jazyk:Inglês
Vydáno: SAGE Publications 2016
Témata:
Case of the Month
On-line přístup: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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