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LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation
In LEOPARD syndrome, mutations affecting exon 13 of the PTPN11 gene have been correlated with a rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy (HCM). This is a report of early onset severe HCM in an infant with LEOPARD syndrome and an unusual mutation in exon 13, sh...
Tallennettuna:
| Päätekijät: | , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Medknow Publications
2011
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3104541/ https://ncbi.nlm.nih.gov/pubmed/21677813 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0974-2069.79631 |
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