| Literature DB >> 25633065 |
Abstract
Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.Entities:
Keywords: Genetics; Neurodevelopment; Neurology; Neuromuscular; Ophthalmology
Mesh:
Year: 2015 PMID: 25633065 DOI: 10.1136/archdischild-2014-307035
Source DB: PubMed Journal: Arch Dis Child ISSN: 0003-9888 Impact factor: 3.791