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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: | , , , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group
2012
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| Soggetti: | |
| 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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