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Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly
Congenital heart disease (CHD) associated with polydactyly involves various genes. We aimed to identify variations from genes related to complex CHD with polydactyly and to investigate the cellular functions related to the mutations. Blood was collected from a complex CHD case with polydactyly, and...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7753982/ https://www.ncbi.nlm.nih.gov/pubmed/33098376 http://dx.doi.org/10.1111/jcmm.15950 |