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Article

Multiple café au lait spots in familial patients with MAP2K2 mutation.

American journal of medical genetics. Part A - 1 Feb 2014

Takenouchi Toshiki, Shimizu Atsushi, Torii Chiharu, Kosaki Rika, Takahashi Takao, Saya Hideyuki, Kosaki Kenjiro

Abstract excerpt

Recent advances in genetic diagnostic technologies have made the classic disease nosology highly complicated. This situation is exemplified by rasopathies, among which neurofibromatosis type 1 and Noonan syndrome represent prototypic entities. The former condition is characterized by multiple café au lait spots and neurofibromas, while the latter is characterized by distinct facial features, webbed neck,...

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PMID: 24311457
DOI: 10.1002/ajmg.a.36288

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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