Article
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
Human molecular genetics - 15 Oct 2017
Fazeli Walid, Herkenrath Peter, Stiller Barbara, Neugebauer Antje, Fricke Julia, Lang-Roth Ruth, Nürnberg Gudrun, Thoenes Michaela, Becker Jutta, Altmüller Janine, Volk Alexander E, Kubisch Christian, Heller Raoul
Abstract excerpt
Congenital cranial dysinnervation disorders (CCDDs) comprise a heterogeneous spectrum of diseases characterized by congenital, non-progressive impairment of eye, eyelid and/or facial movements including Möbius syndrome, Duane retraction syndrome, congenital ptosis, and congenital fibrosis of the extraocular muscles. Over the last 20 years, several CCDDs have been identified as neurodevelopmental disorders that...
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