TY - JOUR
AU1 - Hadisurya, Jeffrie
AU2 - Guey, Stephanie
AU3 - Grangeon, Lou
AU4 - Wieczorek, Dagmar
AU5 - Corpechot, Michaelle
AU6 - Schwitalla, Jan
AU7 - Kraemer, Markus
AB - Moyamoya angiopathy is a rare vasculopathy with stenosis and/or occlusion of bilateral intracranial parts of internal carotid arteries and/or proximal parts of middle and anterior cerebral arteries. PHACE syndrome is characterized by large segmental hemangiomas in the cervical-facial region. Both conditions are known to be associated in rare cases. Recently, it was discussed in the literature that RNF213 variants could be etiologically involved in this association. Here, we describe a childhood case with this rare co-occurrence in which we did not identify any rare RNF213 variant. The clinical and genetic backgrounds are discussed.
TI - Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants
JF - Child's Nervous System
DO - 10.1007/s00381-019-04145-9
DA - 2019-04-29
UR - https://www.deepdyve.com/lp/springer-journals/moyamoya-angiopathy-in-phace-syndrome-not-associated-with-rnf213-uFonTASe0F
SP - 1231
EP - 1237
VL - 35
IS - 7
DP - DeepDyve
ER -