Congenital fibrosis of the extra-ocular muscles (CFEOM) and the cranial dysinnervation disorders
Congenital fibrosis of the extra-ocular muscles (CFEOM) and the cranial dysinnervation disorders
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DOI：
10.1038/s41433-019-0700-z
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发表时间：
2020-02-01
期刊：
影响因子：
3.9
通讯作者：
Vivian, Anthony J.
中科院分区：
文献类型：
--
作者：
Vivian, Anthony J.
先天性眼外肌纤维化是一种先天性颅神经支配障碍。本文综述了CFEOM表型和CCDD的特点，与这些疾病和过程相关的纤维化，以及颅神经肌肉单位胚胎发育中涉及的基因。特别是，它侧重于神经嵴的身份，轴突的指导和轴突建设的CFEOMs和治疗策略的一些考虑的遗传学。
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 the processes, and genes involved in the embryological development of cranial neuromuscular units. In particular, it focuses on the genetics of neural crest identity, axon guidance, and axon construction in relation to the CFEOMs and some consideration of treatment strategies.