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Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report

BACKGROUND: X-linked ichthyosis (XLI) is a recessive keratinization condition caused by deficient activity of steroid-sulfatase due to mutations in steroid sulfatase (STS) gene located on the X chromosome. In contrast, ichthyosis vulgaris (IV) is caused by filaggrin deficiency due to semi-dominant l...

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Detalles Bibliográficos
Autores principales: Wang, Xiong, Tan, Lu, Shen, Na, Lu, Yanjun, Zhang, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6052571/
https://www.ncbi.nlm.nih.gov/pubmed/30021537
http://dx.doi.org/10.1186/s12881-018-0642-5