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中文Primrose Syndrome (PRIMS)
Alias:
Ossified Ear Cartilages with Mental Deficiency, Muscle Wasting, and Bony Changes
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Prims
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Primrose 综合症，又称为硬化耳软骨伴有精神发育迟滞、肌肉萎缩和骨变化，与3q13.31染色体缺失综合症和肌肉萎缩有关。Primrose 综合症相关的重要基因是ZBTB20（锌指和BTB域包含20）。附属组织包括眼睛和大脑，相关表型为智力障碍和脊柱侧弯。
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