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Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys–Dietz Syndrome
Loeys–Dietz syndrome (LDS) is a rare connective tissue genetic disorder that is caused by a pathogenic variant in genes of transforming growth factor (TGF) beta receptor 1 (TGFBR1), TGFBR2, mothers against decapentaplegic homolog 2 (SMAD2), SMAD3, TGFB2, or TGFB3. It is characterized by aggressive v...
Sparad:
| I publikationen: | Front Genet |
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| Huvudupphovsmän: | , , , , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Frontiers Media S.A.
2020
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7266969/ https://ncbi.nlm.nih.gov/pubmed/32528524 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00479 |
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