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The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease

机译:斜视的遗传基础:疾病遗传基础的当前知识的巩固。

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摘要

In recent years, our understanding of the genetic foundations of incomitant strabismus has grown significantly. Much new understanding has been gleaned since the concept of congenital cranial dysinnervation disorders (CCDDs) was introduced in 2002, and the genetic basis of CCDDs continues to be elucidated. In this review, we aim to provide an update of the genetic and clinical presentation of these disorders. Disorders reviewed include Duane syndrome (DS), HOXA1 and HOXB1 syndromes, Moebius syndrome, congenital fibrosis of the extraocular muscles (CFEOM), and horizontal gaze palsy with progressive scoliosis (HGPPS).
机译:近年来,我们对伴随性斜视的遗传基础的了解已大大增加。自从2002年引入先天性颅神经失调症(CCDDs)的概念以来,人们获得了许多新的理解,而CCDDs的遗传基础仍在不断阐明。在这篇综述中,我们旨在提供这些疾病的遗传和临床表现的更新。审查的疾病包括Duane综合征(DS),HOXA1和HOXB1综合征,Moebius综合征,眼外肌先天性纤维化(CFEOM)和进行性脊柱侧凸的水平凝视麻痹(HGPPS)。

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