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Article

Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.

American journal of medical genetics. Part A - 1 Oct 2009

Graham John M, Kramer Nancy, Bejjani Bassem A, Thiel Christian T, Carta Claudio, Neri Giovanni, Tartaglia Marco, Zenker Martin

Abstract excerpt

Noonan syndrome (NS) is a genetically heterogeneous disorder caused most commonly by activating mutations in PTPN11. We report a patient with hypotonia, developmental delay and clinical features suggestive of NS. High-resolution chromosome analysis was normal, and sequence analyses of PTPN11, SOS1, KRAS, BRAF, RAF1, MEK, and MEK2 were also normal. Array CGH revealed a single copy gain of 9 BAC clones at...

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Source

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Identifiers

PMID: 19760651
DOI: 10.1002/ajmg.a.32992
PMCID: PMC2768228

Genes

PTPN11
BRAF
KRAS
RAF1
SOS1

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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Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.PMID 19760651Read ↗

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