Structural Malformations of the Brain, Eye, and Pituitary Gland in PHACE Syndrome

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....

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Udgivet i:Am J Med Genet A
Main Authors: Steiner, Jack E., McCoy, Garrett N., Hess, Christopher P., Dobyns, William B., Metry, Denise W., Drolet, Beth A., Maheshwari, Mohit, Siegel, Dawn H.
Format: Artigo
Sprog:Inglês
Udgivet: 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5844264/
https://ncbi.nlm.nih.gov/pubmed/29171184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38523
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