Copy number variation analysis in 98 individuals with PHACE syndrome

Autor: Frieden, Ilona, Shieh, Joseph, Kwok, Pui-Yan, Siegel, DH, Shieh, JTC, Kwon, EK, Baselga, E, Blei, F, Cordisco, M, Dobyns, WB, Duffy, KJ, Garzon, MC, Gibbs, DL
Jazyk: angličtina
Rok vydání: 2013
Předmět:
Zdroj: Frieden, Ilona; Shieh, Joseph; Kwok, Pui-Yan; Siegel, DH; Shieh, JTC; Kwon, EK; et al.(2013). Copy number variation analysis in 98 individuals with PHACE syndrome. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/5mq7w8ks
Popis: 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
Databáze: OpenAIRE