Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

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,...

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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2012
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3234504/
https://ncbi.nlm.nih.gov/pubmed/21792232
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.135
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