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导致先天性鱼鳞病和寻常型鱼鳞病的新型突变组合。

A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris.

作者信息

Shearer Zackary, White Gwenevere, Steed John Zachary, Brown Carla, Venable Tara, Baber Megan

机构信息

University of Arkansas for Medical Sciences Little Rock Arkansas USA.

出版信息

Clin Case Rep. 2023 Sep 19;11(9):e7910. doi: 10.1002/ccr3.7910. eCollection 2023 Sep.

Abstract

Coexistence of TGM1 and FLG mutations in a newborn with congenital ichthyosis is not well described in the literature. Early genetic testing and counseling are crucial for accurate diagnosis and appropriate management. Further exploration of associated problems, including hearing loss and developmental delay, is warranted in patients with these mutations.

摘要

先天性鱼鳞病新生儿中TGM1和FLG突变共存的情况在文献中描述不多。早期基因检测和咨询对于准确诊断和恰当管理至关重要。对于有这些突变的患者,有必要进一步探索包括听力损失和发育迟缓在内的相关问题。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c18/10509338/36e79c3d446b/CCR3-11-e7910-g002.jpg

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