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Copy number variation analysis in 98 individuals with PHACE syndrome
Dawn H. Siegel
, Joseph T.C. Shieh
, Eun Kyung Kwon
, Eulalia Baselga
, Francine Blei
, Maria Cordisco
,
William B. Dobyns
, Kelly J. Duffy
, Maria C. Garzon
, David L. Gibbs
, Johannes F. Grimmer
, Susan J. Hayflick
, Alfons L. Krol
, Pui Yan Kwok
, Rachel Lorier
, Andrea Matter
, Shannon McWeeney
, Denise Metry
, Sheri Mitchell
, Elena Pope
Jennifer L. Santoro, David A. Stevenson, Pinar Bayrak-Toydemir, Beth Wilmot, Elizabeth A. Worthey, Ilona J. Frieden, Beth A. Drolet, Ulrich Broeckel
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Research output
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Contribution to journal
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Article
›
peer-review
27
Scopus citations
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Keyphrases
Copy number Analysis
100%
PHACE Syndrome
100%
Genetic Basis
14%
Centromere
14%
Duplication
14%
Xq28
14%
Congenital Anomalies
14%
Arterial Anomaly
14%
Aortic Coarctation
14%
Eye Anomalies
14%
17q11.2
14%
PHACE
14%
Genomic Variants
14%
Gene Copy number Variation
14%
Rare CNVs
14%
Sternal Defect
14%
Facial Hemangioma
14%
Rare Copy number Variations
14%
Posterior Fossa Anomalies
14%
Biochemistry, Genetics and Molecular Biology
Copy-Number Variation
100%
Genomics
66%
Genetics
33%
Centromere
33%