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Article

Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.

American journal of medical genetics. Part A - 1 Jan 2018

Steiner Jack E, McCoy Garrett N, Hess Christopher P, Dobyns William B, Metry Denise W, Drolet Beth A, Maheshwari Mohit, Siegel Dawn H

Abstract excerpt

PHACE syndrome is the association of segmental facial hemangiomas with congenital arterial, brain, cardiac, and ocular anomalies. Structural brain malformations affect 41-52% of PHACE patients and can be associated with focal neurologic deficits, developmental delays, and/or intellectual disability. To better characterize the spectrum of structural brain and other intracranial anomalies in PHACE syndrome, MRI...

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Identifiers

PMID: 29171184
DOI: 10.1002/ajmg.a.38523
PMCID: PMC5844264

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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