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...

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Detalles Bibliográficos
Autores principales: Ganigara, Madhusudan, Prabhu, Atul, Kumar, Raghvannair Suresh
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3104541/
https://www.ncbi.nlm.nih.gov/pubmed/21677813
http://dx.doi.org/10.4103/0974-2069.79631

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