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Article

Hypertrophic neuropathy in Noonan syndrome with multiple lentigines.

American journal of medical genetics. Part A - 1 Jun 2016

Maridet Claire, Sole Guilhem, Morice-Picard Fanny, Taieb Alain

Abstract excerpt

RASopathies comprise several genetic syndromes with mainly cardio-facial-cutaneous manifestations. We report a patient with Noonan syndrome with multiple lentigines (NSML) due to a PTPN11 (p.Thr468Met) mutation associated with hypertrophic neuropathy of lumbar plexus in an adult woman, initially referred for neuropathic pain. Differential diagnosis of neurofibromatosis type 1 (NF1) and other RASopathies is...

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Source

Identifiers

PMID: 26952712
DOI: 10.1002/ajmg.a.37601

Genes

PTPN11

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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