Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome
Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome
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Publisher
Cham: Springer International Publishing
Journal title
Language
English
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Publisher
Cham: Springer International Publishing
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Scope and Contents
Contents
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 u...
Alternative Titles
Full title
Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3234504
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3234504
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2011.135
