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Article

A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.

American journal of medical genetics. Part A - 1 Feb 2015

Nishi Eriko, Mizuno Seiji, Nanjo Yuka, Niihori Tetsuya, Fukushima Yoshimitsu, Matsubara Yoichi, Aoki Yoko, Kosho Tomoki

Abstract excerpt

Noonan syndrome with multiple lentigines (NSML), formerly referred to as LEOPARD syndrome, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, growth retardation, and sensorineural deafness. To date, PTPN11, RAF1, and BRAF have been reported to be causal for NSML. We report on a...

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Source

Identifiers

PMID: 25423878
DOI: 10.1002/ajmg.a.36842

Genes

PTPN11
BRAF
RAF1

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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