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Article

Eyelid nystagmus in a child with cardiofaciocutaneous syndrome associated with BRAF mutation.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Apr 2022

Wong Brittany M, Matsumoto Joyce H, Pineles Stacy L

Abstract excerpt

Eyelid nystagmus, thought to reflect midbrain or hindbrain disease, is a rare condition that typically occurs in association with neurologic and neuroophthalmic abnormalities. Cardiofaciocutaneous (CFC) syndrome associated with B-raf protooncogene serine/threonine kinase (BRAF) mutation is a complex syndrome that is associated with neurologic and neuroophthalmologic abnormalities. We report the case of a...

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Source

Identifiers

PMID: 35149204
DOI: 10.1016/j.jaapos.2021.12.004

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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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