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突变频谱和Pseudoxanthoma Elasticum中的深度表型:来自葡萄牙队列的发现

Margarida Q Dias1,2, Nuno Gouveia1,2, Raquel Félix1,2

  • 1Ophthalmology Unit, Centro Hospitalar e Universitário de Coimbra, (CHUC), Coimbra, Portugal.

European journal of ophthalmology
|April 11, 2024
PubMed
概括

这项研究在葡萄牙队列中描述了Pseudoxanthoma Elasticum (PXE),确定了新的ABCC6基因变异,并证实了眼部表现. 没有发现强烈的基因型-表型相关性.

关键词:
遗传学 < 遗传学血管状条纹 < 视网膜冠状神经血管膜 < UVEA分子<遗传学>与全身性疾病相关的视网膜退行< RETINA

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