De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similariti...
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
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Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
Molecular diagnostics can resolve locus heterogeneity underlying clinical phenotypes that may otherwise be co-assigned as a specific syndrome based on shared clinical features, and can associate phenotypically diverse diseases to a single locus through allelic affinity. Here we describe an apparently novel syndrome, likely caused by de novo truncat...
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Full title
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3707024
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3707024
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/gm415
