Article
Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene.
European radiology - 1 Aug 2014
Rajeshkannan Ramiah, kulkarni Chinmay, Kappanayil Mahesh, Nampoothiri Sheela, Malfait Fransiska, De Paepe Anne, Moorthy Srikanth
Abstract excerpt
OBJECTIVES: We present the imaging findings of a newly identified lethal arteriopathy associated with a novel mutation in the gene encoding fibulin-4, occurring in a distinct community from southern India. MATERIAL AND METHODS: A total of 31 children from a distinct population subgroup who presented with characteristic arterial dilatation and tortuosity were studied. All children except one belonged to unrelated...
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