Mutational Analysis of PTPN11 Gene in Taiwanese Children with Noonan Syndrome
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference15 articles.
1. Associated noncardiac malformations in children with congenital heart disease;Noonan;J Pediatr,1963
2. A clinical study of Noonan syndrome;Sharland;Arch Dis Child,1992
3. Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression;van der Burgt;J Pediatr,1999
4. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome;Tartaglia;Nat Genet,2001
5. Genotype-phenotype correlations in Noonan syndrome;Zenker;J Pediatr,2004
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3. High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome;Journal of Applied Genetics;2023-11-21
4. A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects;European Journal of Medical Research;2022-12-10
5. PTPN11 c.853T>C (p.Phe285Leu) mutation in Noonan syndrome with chylothorax;NAGOYA J MED SCI;2022
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