The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder
Author:
Publisher
Elsevier BV
Subject
Ophthalmology,Pediatrics, Perinatology, and Child Health
Reference14 articles.
1. 110th ENMC International Workshop: the congenital cranial dysinnervation disorders (CCDDs). Naarden, the Netherlands, 25-27 October, 2002;Gutowski;Neuromuscul Disord,2003
2. Recent progress in understanding congenital cranial dysinnervation disorders;Oystreck;J Neuroophthalmol,2011
3. The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis;Dieterich;Hum Mol Genet,2013
4. Mutations in ECEL1 cause distal arthrogryposis type 5D;McMillin;Am J Hum Genet,2013
5. Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes;Shaaban;Clin Genet,2014
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2. A novel compound heterozygous variant of ECEL1 induced joint dysfunction and cartilage degradation: a case report and literature review;Frontiers in Neurology;2024-01-24
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