Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype

Int J Cardiol. 2015:186:13-5. doi: 10.1016/j.ijcard.2015.03.260. Epub 2015 Mar 19.

Authors

Elif Yilmaz Gulec¹, Zeynep Ocak², Sukru Candan¹, Esra Ataman¹, Coskun Yarar³

Affiliations

¹ Department of Medical Genetics, Istanbul Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
² Department of Medical Genetics, Istanbul Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey. Electronic address: [email protected].
³ Department of Pediatric Neurology, Istanbul Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.

PMID: 25804457
DOI: 10.1016/j.ijcard.2015.03.260

No abstract available

Keywords: Noonan syndrome; Novel mutation; PTPN11 gene.

Publication types

Case Reports
Letter

MeSH terms

Child
DNA / genetics*
DNA Mutational Analysis
Female
Humans
Infant
Mutation*
Noonan Syndrome / genetics*
Noonan Syndrome / metabolism
Phenotype
Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics*
Protein Tyrosine Phosphatase, Non-Receptor Type 11 / metabolism

Substances

DNA
Protein Tyrosine Phosphatase, Non-Receptor Type 11