| Phenotype: | Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome |
|---|---|
| Dna Change: | exon 2 to 10 deletion |
| Protein Change: | |
| Mutation Type: | Deletion |
| Mutation Effect: | |
| Location: | exons 2 to 10 |
| Transcript: |
Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonnière M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerrière A, Loeuillet L, Roume J, Martinovic J, Mougou-Zerelli S, Gonzales M, Meyer V, Wessner M, Feysot CB, Nitschke P, Leticee N, Munnich A, Lyonnet S, Wookey P, Gyapay G, Foliguet B, Vekemans M, Attié-Bitach T, High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.Hum. Mutat.. 2010; 31(10):1134-41