由ALAS2半杂合子变体引起的具有早发表现的X连锁显性红细胞生成性原卟啉症。

IF 3.7 4区 医学 Q1 DERMATOLOGY Clinical and Experimental Dermatology Pub Date : 2024-11-22 DOI:10.1093/ced/llae234
Sahana M Srinivas, Celia Moss
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X-linked dominant erythropoietic protoporphyria with early-onset manifestations caused by a hemizygous ALAS2 variant.
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来源期刊
CiteScore
3.20
自引率
2.40%
发文量
389
审稿时长
3-8 weeks
期刊介绍: Clinical and Experimental Dermatology (CED) is a unique provider of relevant and educational material for practising clinicians and dermatological researchers. We support continuing professional development (CPD) of dermatology specialists to advance the understanding, management and treatment of skin disease in order to improve patient outcomes.
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