Cargando…
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: | Xie, Wanqin, Zhou, Haiyan, Zhou, Lin, Gong, Yun, Lin, Jiwu, Chen, Yong |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2020
|
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 |
Ejemplares similares
-
Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family
por: Karim, Noreen, et al.
Publicado: (2019) -
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family
por: Yang, Duo, et al.
Publicado: (2021) -
Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis
por: Yang, Zhou, et al.
Publicado: (2023) -
X-linked ichthyosis along with epidermolysis bullosa
por: Pallagatti, Shambulingappa, et al.
Publicado: (2012) -
Comorbid Medical Issues in X-Linked Ichthyosis
por: Brcic, Lucija, et al.
Publicado: (2022)