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Article

A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.

Acta paediatrica (Oslo, Norway : 1992) - 1 Apr 2009

Nyström Anna-Maja, Ekvall Sara, Strömberg Bo, Holmström Gerd, Thuresson Ann-Charlotte, Annerén Göran, Bondeson Marie-Louise

Abstract excerpt

AIM: The clinical overlap among Noonan syndrome (NS), cardio-facio-cutaneous (CFC), LEOPARD and Costello syndromes as well as Neurofibromatosis type 1 is extensive, which complicates the process of diagnosis. Further genotype-phenotype correlations are required to facilitate future diagnosis of these patients. Therefore, investigations of the genetic cause of a severe phenotype in a patient with NS and the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19120036
DOI: 10.1111/j.1651-2227.2008.01170.x

Genes

PTPN11
SPRED1
SPRED2

Variants

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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