Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disord...
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders
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Author / Creator
Calpena, Eduardo , Wurmser, Maud , McGowan, Simon J , Atique, Rodrigo , Bertola, Débora R , Cunningham, Michael L , Gustafson, Jonas A , Johnson, David , Morton, Jenny E V , Passos-Bueno, Maria Rita , Timberlake, Andrew T , Lifton, Richard P , Wall, Steven A , Twigg, Stephen R F , Maire, Pascal and Wilkie, Andrew O M
Publisher
England: BMJ Publishing Group Ltd
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Language
English
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Publisher
England: BMJ Publishing Group Ltd
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Contents
BackgroundPathogenic heterozygous SIX1 variants (predominantly missense) occur in branchio-otic syndrome (BOS), but an association with craniosynostosis has not been reported.MethodsWe investigated probands with craniosynostosis of unknown cause using whole exome/genome (n=628) or RNA (n=386) sequencing, and performed targeted resequencing of SIX1...
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Full title
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8273188
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8273188
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2020-107459
