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Clinical features and genetic analysis of two Chinese families with X-linked ichthyosis

OBJECTIVE: Recessive X-linked ichthyosis (RXLI) caused by deficiency of the steroid sulfatase gene (STS) has a reported prevalence of 1/2000 to 1/6000. The present study aimed to characterize the phenotypes and genotypes of two Chinese families with RXLI. METHODS: The patients were referred to the F...

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Podrobná bibliografie
Vydáno v:J Int Med Res
Hlavní autoři: Xie, Wanqin, Zhou, Haiyan, Zhou, Lin, Gong, Yun, Lin, Jiwu, Chen, Yong
Médium: Artigo
Jazyk:Inglês
Vydáno: SAGE Publications 2020
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7545777/
https://ncbi.nlm.nih.gov/pubmed/33026262
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0300060520962292
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