Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect i...
Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
Intellectual disability (ID) is a clinically important disease and a most prevalent neurodevelopmental disorder. The etiology and pathogenesis of ID are poorly recognized. Exome sequencing revealed a homozygous missense mutation in the POLR3B gene in a consanguineous family with three Intellectual disability with craniofacial anomalies patients. PO...
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Full title
Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery
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TN_cdi_doaj_primary_oai_doaj_org_article_dd3ba46317904183b38fff42f15a0508
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_dd3ba46317904183b38fff42f15a0508
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ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-022-01237-5
