Article
Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.
European journal of human genetics : EJHG - 1 Jan 2012
Hammond Peter, Hannes Femke, Suttie Michael, Devriendt Koen, Vermeesch Joris Robert, Faravelli Francesca, Forzano Francesca, Parekh Susan, Williams Steve, McMullan Dominic, South Sarah T, Carey John C, Quarrell Oliver
Abstract excerpt
Wolf-Hirschhorn syndrome is caused by anomalies of the short arm of chromosome 4. About 55% of cases are due to de novo terminal deletions, 40% from unbalanced translocations and 5% from other abnormalities. The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum. We used dense surface modelling and pattern recognition techniques to...
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