Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and resu...
Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes
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England: BMJ Publishing Group Ltd
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Language
English
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England: BMJ Publishing Group Ltd
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SATB2-associated syndrome (SAS) is caused by pathogenic variants in SATB2, which encodes an evolutionarily conserved transcription factor. Despite the broad range of phenotypic manifestations and variable severity related to this syndrome, haploinsufficiency has been assumed to be the primary molecular explanation.In this study, we describe eight i...
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Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes
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TN_cdi_proquest_journals_3110088381
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_3110088381
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ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg-2024-110015
