New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulato...
New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements
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Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publisher
England: BMJ Publishing Group Ltd
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Contents
BackgroundAuriculocondylar syndrome (ARCND) is a rare genetic disease that affects structures derived from the first and second pharyngeal arches, mainly resulting in micrognathia and auricular malformations. To date, pathogenic variants have been identified in three genes involved in the EDN1-DLX5/6 pathway (PLCB4, GNAI3 and EDN1) and some cases r...
Alternative Titles
Full title
New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9411924
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9411924
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2021-107825
