Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome
- 7 September 2004
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 130A (4) , 432-434
- https://doi.org/10.1002/ajmg.a.30281
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromesJournal of Medical Genetics, 2003
- A Novel PTPN11 mutation in LEOPARD syndromeHuman Mutation, 2003
- Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemiaNature Genetics, 2003
- Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 GeneAmerican Journal of Human Genetics, 2002
- PTPN11(Protein-Tyrosine Phosphatase, Nonreceptor-Type 11) Mutations in Seven Japanese Patients with Noonan SyndromeJournal of Clinical Endocrinology & Metabolism, 2002
- PTPN11 mutations in LEOPARD syndromeJournal of Medical Genetics, 2002
- PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic HeterogeneityAmerican Journal of Human Genetics, 2002
- Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndromeNature Genetics, 2001
- Multiple lentigines syndromeThe American Journal of Medicine, 1976
- Multiple Lentigenes SyndromeAmerican Journal of Diseases of Children, 1969