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Article

PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.

Genetic testing - 1 Jan 2006

Bertola Débora R, Pereira Alexandre C, Albano Lílian Maria José, De Oliveira Paulo S L, Kim Chong A, Krieger José Eduardo

Abstract excerpt

Mutations in the PTPN11 gene are known to cause a large fraction of the cases of Noonan syndrome. The objective of this study was to determine the PTPN11 gene mutation rate in a cohort of clinically well-characterized Brazilian patients with Noonan or Noonan-like syndromes and to study the genotype-phenotype correlation. Fifty probands with Noonan syndrome ascertained according to well-established diagnostic...

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Source

Identifiers

PMID: 17020470
DOI: 10.1089/gte.2006.10.186

Genes

PTPN11

Provenance

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PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.PMID 17020470Read ↗

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