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Article

Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.

European journal of pediatrics - 1 Jan 2012

Papadopoulou Anna, Issakidis Michalis, Gole Evangelia, Kosma Konstantina, Fryssira Helen, Fretzayas Andreas, Nicolaidou Polyxeni, Kitsiou-Tzeli Sophia

Abstract excerpt

Noonan syndrome (NS) is a common multiple congenital anomaly entity, the diagnosis of which, on clinical grounds, is based on a comprehensive scoring system in order to select patients for molecular confirmation. Our aim was to evaluate the phenotypic characteristics in the light of PTPN11 mutations. The study revealed 80 patients who were referred with initial indication of NS or Noonan-like syndrome (NLS) and...

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Source

Identifiers

PMID: 21590266
DOI: 10.1007/s00431-011-1487-5

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.PMID 21590266Read ↗

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