New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements

BACKGROUND: Auriculocondylar 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-DLX...

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Detalles Bibliográficos
Autores principales: Romanelli Tavares, Vanessa Luiza, Guimarães-Ramos, Sofia Ligia, Zhou, Yan, Masotti, Cibele, Ezquina, Suzana, Moreira, Danielle de Paula, Buermans, Henk, Freitas, Renato S, Den Dunnen, Johan T, Twigg, Stephen R F, Passos-Bueno, Maria Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Novel Disease Loci
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9411924/
https://www.ncbi.nlm.nih.gov/pubmed/34750192
http://dx.doi.org/10.1136/jmedgenet-2021-107825

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9411924/
https://www.ncbi.nlm.nih.gov/pubmed/34750192
http://dx.doi.org/10.1136/jmedgenet-2021-107825

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