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Article

Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation.

American journal of medical genetics. Part A - 1 Jul 2012

Kantaputra Piranit Nik, van den Ouweland Ans, Sangruchi Tumtip, Limwongse Chanin

Abstract excerpt

A Thai woman, who was affected with neurofibromatosis type 1, was followed up and re-evaluated at ages 45, 61, and 67 years. Her mother and her three brothers were also affected. The proposita was very severely affected. She was born blind with underdeveloped eyeglobes and had large plexiform neu...

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PMID: 22678692
DOI: 10.1002/ajmg.a.35422

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22678692-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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