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Article

Recurrent ganglioneuroma in PTPN11-associated Noonan syndrome: A case report and literature review.

American journal of medical genetics. Part A - 1 Jun 2021

Morales-Rosado Joel A, Singh Herchran, Olson Rory J, Larsen Brandon T, Hager Megan M, Klee Eric W, Dhamija Radhika

Abstract excerpt

Noonan syndrome (NS) is an autosomal dominant condition with variable expressivity most commonly due to a germline pathogenic variant in PTPN11, which encodes the protein tyrosine phosphatase SHP-2. Gain-of-function variants in PTPN11 are known to promote oncogenic behavior in affected tissues. We report the clinical description of a young adult male presenting with relapsing ganglioneuromas, dysmorphic features,...

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Identifiers

PMID: 33779033
DOI: 10.1002/ajmg.a.62178

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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