Genotype–phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome

No abstract is available for this paper.

• Publication year

  2008

• Venue

  American Journal of Medical Genetics. Part A

• Publication date

  2008-03-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1002/ajmg.a.32206PMID 18241070
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

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• Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome

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• Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.

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• Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes

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• rforming a challenge test with flecainide to rule out Brugada ndrome. Until the prognosis of patients presenting with Sopathies: From Noonan to LEOPARD Syndrome Sopatı́as: del sı́ndrome de Noonan al sı́ndrome LEOPARD

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• RASopatías: del síndrome de Noonan al síndrome LEOPARD

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• Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His

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• LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling.

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• Appendix: Prenatal Diagnosis of Additional Miscellaneous Genetic Disorders

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