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Updated: Jun 24, 2025

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带有同卵性KIF26A变异的先天性头骨缩障碍

Austin T Gregg¹, Taylor Gateman², Mary C Whitman³

¹Harvard Medical School, Boston, Massachusetts.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

|June 12, 2024

概括

先天性脑失神障碍可能源于基因素基因突变. 这项研究确定了KIF26A功能丧失突变作为一种新的原因,与CFEOM类似的眼睛运动受限.

科学领域:

神经科学是一个神经科学.
遗传学是一个遗传学.
眼科医生眼科眼科

背景情况:

眼外肌肉先天性纤维化 (CFEOM) 类型1与KIF21A基因变异有关,导致明显的眼动限制和死.
已知另一种基因素运动蛋白质KIF26A会导致先天性脑形和由于功能丧失而导致的希尔施普隆病.

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