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

• Main Authors: Lely A. Quina (Author), Takashi Kuramoto (Author), Daniela V. Luquetti (Author), Timothy C. Cox (Author), Tadao Serikawa (Author), Eric E. Turner (Author)
• Format: Book
• Published: The Company of Biologists, 2012-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

SUMMARY 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 h...