Cargando…
STS pathogenic variants in a Dutch patient cohort clinically suspected for X‐linked ichthyosis show genetic heterogeneity
[Image: see text]
Autores principales: | Nagtzaam, Ivo F., van Leersum, Frank S., Kouwenberg, Laurie C.M., Blok, Marinus J., Vreeburg, Maaike, Steijlen, Peter M., Gostyński, Antoni, van Geel, Michel |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9804759/ https://www.ncbi.nlm.nih.gov/pubmed/35822528 http://dx.doi.org/10.1111/bjd.21775 |
Ejemplares similares
-
Schnitzler’s syndrome - a novel hypothesis of a shared pathophysiologic mechanism with Waldenström’s disease
por: van Leersum, FS, et al.
Publicado: (2019) -
Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report
por: Wang, Xiong, et al.
Publicado: (2018) -
X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene
por: Chouk, Hamza, et al.
Publicado: (2022) -
Identification of a novel partial deletion of STS associated with pre-Descemet corneal dystrophy and X-linked ichthyosis
por: Williams, Dominic, et al.
Publicado: (2023) -
New developments in the molecular treatment of ichthyosis: review of the literature
por: Joosten, M. D. W., et al.
Publicado: (2022)