Copy Number Variation analysis in 98 individuals with PHACE syndrome

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 suggesti...

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Detalles Bibliográficos
Autores principales: Siegel, DH, Shieh, JTC, Kwon, EK, Baselga, E, Blei, F, Cordisco, M, Dobyns, WB, Duffy, K, Garzon, MC, Gibbs, DL, Grimmer, JF, Hayflick, SJ, Krol, AL, Kwok, PY, Lorier, R, Matter, A, McWeeney, S, Metry, D, Mitchell, S, Pope, E, Santoro, J, Stevenson, DA, Toydemir, PB, Wilmot, B, Worthey, E, Frieden, IJ, Drolet, BA, Broeckel, U
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3971866/
https://www.ncbi.nlm.nih.gov/pubmed/23096700
http://dx.doi.org/10.1038/jid.2012.367

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