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      PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".

      European Journal of Pediatrics

      Cardiomyopathy, Hypertrophic, diagnosis, genetics, Child, Preschool, Diagnosis, Differential, Female, Humans, Intracellular Signaling Peptides and Proteins, LEOPARD Syndrome, Male, Mutation, Noonan Syndrome, Phenotype, Prenatal Diagnosis, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Protein Tyrosine Phosphatases

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          Abstract

          We describe the "LEOPARD syndrome (LS) phenotype" associated with the Gln510Glu mutation of the PTPN11 gene in two patients presenting with rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy and structural abnormalities of the mitral valve, facial anomalies, café-au-lait spots and multiple lentigines.

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          16733669
          10.1007/s00431-006-0163-7

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