Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations-Reference-Cited by-同舟云学术

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

Published:2008 Issue:7 Volume:29 Page:959-965
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Revencu Nicole,Boon Laurence M.,Mulliken John B.,Enjolras Odile,Cordisco Maria Rosa,Burrows Patricia E.,Clapuyt Philippe,Hammer Frank,Dubois Josée,Baselga Eulalia,Brancati Francesco,Carder Robin,Quintal José Miguel Ceballos,Dallapiccola Bruno,Fischer Gayle,Frieden Ilona J.,Garzon Maria,Harper John,Johnson-Patel Jennifer,Labrèze Christine,Martorell Loreto,Paltiel Harriet J.,Pohl Annette,Prendiville Julie,Quere Isabelle,Siegel Dawn H.,Valente Enza Maria,Van Hagen Annet,Van Hest Liselot,Vaux Keith K.,Vicente Asuncion,Weibel Lisa,Chitayat David,Vikkula Miikka

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease

2. Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14

3. Mutations in a Novel Factor, Glomulin, Are Responsible for Glomuvenous Malformations (“Glomangiomas”)

4. A new case of Klippel-Trenaunay-Weber (KTW) syndrome: Evidence of autosomal dominant inheritance

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