ArticleThe Journal of investigative dermatology2013
Copy number variation analysis in 98 individuals with PHACE syndrome.
Article in The Journal of investigative dermatology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
14 citing papers in PubMed, 28 citations in OpenAlex.
- Unveiling the Prevalence and Surgical Burden of Neurocristopathies: A Scoping Review and Statistical Analysis.Research square · 2026Article
- Immune microenvironment of infantile hemangioma: cellular dynamics, molecular networks, and emerging immunomodulatory strategies.Frontiers in immunology · 2026Review
- PHACE syndrome: looking backward and forward.Orphanet journal of rare diseases · 2025Review
- Case Report: Two-month-old infant with PHACE syndrome: facial hemangioma and severe complex coarctation of the aorta.Frontiers in cardiovascular medicine · 2025Article
- Dental root abnormalities in four children with PHACE syndrome.Pediatric dermatology · 2019Article
- Genetic investigation of childhood vascular tumor biology reveals pathways for therapeutic intervention.F1000Research · 2019Review
- Transient ischemic attack in elderly patient with PHACE syndrome.Surgical neurology international · 2019Article
- Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome.Case reports in genetics · 2019Article
- Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.American journal of medical genetics. Part A · 2018Article
- Prenatal Risk Factors for PHACE Syndrome: A Study Using the PHACE Syndrome International Clinical Registry and Genetic Repository.The Journal of pediatrics · 2017Article
- Evaluation of maternal history of miscarriage, infertility and in vitro fertilization as associated factors in PHACE.The British journal of dermatology · 2017Article
- Bacurd1/Kctd13 and Bacurd2/Tnfaip1 are interacting partners to Rnd proteins which influence the long-term positioning and dendritic maturation of cerebral cortical neurons.Neural development · 2016Article
- Structure and function of nucleotide sugar transporters: Current progress.Computational and structural biotechnology journal · 2014Review
- Pathogenesis of infantile haemangioma.The British journal of dermatology · 2013Review
Corrections and comments
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Authors and funding
28 authors at 12 institutions in 4 countries.
Funding
Abstract
PHACE syndrome is the association of large segmental facial hemangiomas and congenital anomalies, such as posterior fossa malformations, cerebral arterial anomalies, coarctation of the aorta, eye anomalies, and sternal defects. To date, the reported cases of PHACE syndrome have been sporadic, suggesting that PHACE may have a complex pathogenesis. We report here genomic copy number variation (CNV) analysis of 98 individuals with PHACE syndrome as a first step in deciphering a potential genetic basis of PHACE syndrome. A total of 3,772 CNVs (2,507 duplications and 1,265 deletions) were detected in 98 individuals with PHACE syndrome. CNVs were then eliminated if they failed to meet established criteria for quality, spanned centromeres, or did not contain genes. CNVs were defined as "rare" if not documented in the database of genomic variants. Ten rare CNVs were discovered (size range: 134-406 kb), located at 1q32.1, 1q43, 3q26.32-3q26.33, 3p11.1, 7q33, 10q24.32, 12q24.13, 17q11.2, 18p11.31, and Xq28. There were no rare CNV events that occurred in more than one subject. Therefore, further study is needed to determine the significance of these CNVs in the pathogenesis of PHACE syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.