Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24333
Abstract: A proper interaction between muscle‐derived collagen XXV and its motor neuron‐derived receptors protein tyrosine phosphatases σ and δ (PTP σ/δ) is indispensable for intramuscular motor innervation. Despite this, thus far, pathogenic recessive variants in the… read more here.
Keywords: congenital cranial; recessive variants; cranial dysinnervation; ocular congenital ... See more keywords
Congenital fibrosis of the extra-ocular muscles (CFEOM) and the cranial dysinnervation disorders
Sign Up to like & getrecommendations! Published in 2019 at "Eye"
DOI: 10.1038/s41433-019-0700-z
Abstract: Congenital fibrosis of the extraocular muscles (CFEOM) is one of the congenital cranial dysinnervation disorders (CCDDs). This review discusses the characteristics of the CFEOM phenotypes and the CCDDs, the fibrosis associated with these disorders and… read more here.
Keywords: congenital fibrosis; fibrosis; cranial dysinnervation; muscles cfeom ... See more keywords
Clinical correlation of imaging findings in congenital cranial dysinnervation disorders involving abducens nerve
Sign Up to like & getrecommendations! Published in 2017 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_1013_15
Abstract: Purpose: High-resolution magnetic resonance imaging (MRI) of intracranial parts of sixth nerve and seventh nerve and the extraocular muscles (EOMs) in orbit to correlate the clinical characteristics in patients with two special forms of strabismus… read more here.
Keywords: cranial dysinnervation; congenital cranial; dysinnervation disorders; nerve ... See more keywords