Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation

Hmx1 is a homeodomain transcription factor expressed in the developing eye, peripheral ganglia, and branchial arches of avian and mammalian embryos. Recent studies have identified a loss-of-function allele at the HMX1 locus as the causative mutation in the oculo-auricular syndrome (OAS) in humans, c...

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Detalles Bibliográficos
Autores principales: Quina, Lely A., Kuramoto, Takashi, Luquetti, Daniela V., Cox, Timothy C., Serikawa, Tadao, Turner, Eric E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Limited 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484864/
https://www.ncbi.nlm.nih.gov/pubmed/22736458
http://dx.doi.org/10.1242/dmm.009910

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