PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.

@article{Ogata2005PTPN11MA,
  title={PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.},
  author={Tsutomu Ogata and Rie Yoshida},
  journal={Pediatric endocrinology reviews : PER},
  year={2005},
  volume={2 4},
  pages={669-74}
}
This review summarizes PTPN11 (protein-tyrosine phosphatase, nonreceptor type 11) mutations and genotype-phenotype correlations in Noonan syndrome (NS) and LEOPARD syndrome (LS). PTPN11 mutations have been identified in approximately 40% of NS patients and in >80% of LS patients. Since the vast majority of mutations reside in and around the broad… CONTINUE READING