Article

Analysis of Whole Genome Sequencing in a Cohort of Individuals with PHACE Syndrome Suggests Dysregulation of RAS/PI3K Signaling

2021-08-09

Abstract excerpt

<h4>ABSTRACT</h4> The acronym PHACE stands for the co-occurrence of posterior brain fossa malformations, hemangiomas, arterial anomalies, cardiac defects, and eye abnormalities. The majority of patients have a segmental hemangioma and at least one developmental structural anomaly. The etiology and pathogenesis are unknown. Here we discuss the candidate causative genes identified in a de novo analysis of whole geno...

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Literature Corpus work: 839ba3af-38de-597f-a3bc-74f0dbb35cc0
DOI: 10.1101/2021.08.05.21261553

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Analysis of Whole Genome Sequencing in a Cohort of Individuals with PHACE Syndrome Suggests Dysregulation of RAS/PI3K SignalingDOI 10.1101/2021.08.05.21261553Read

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