Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome

Oculo-auriculo-vertebral syndrome (OAVS) is a clinically heterogeneous disorder, with both genetic and environmental contributors. Multiple genes have been associated with OAVS and common molecular pathways, such as retinoic acid and the PAX-SIX-EYA-DACH (PSED) network, are being implicated in the d...

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Detalles Bibliográficos
Autores principales: Carter, Shannon, Fellows, Bridget J., Gibson, Kate, Bicknell, Louise S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9553880/
https://www.ncbi.nlm.nih.gov/pubmed/35879406
http://dx.doi.org/10.1038/s41431-022-01154-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9553880/
https://www.ncbi.nlm.nih.gov/pubmed/35879406
http://dx.doi.org/10.1038/s41431-022-01154-2

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