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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545777/ https://www.ncbi.nlm.nih.gov/pubmed/33026262 http://dx.doi.org/10.1177/0300060520962292 |