Cargando…
Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
The heritable forms of keratinization disorders, including various forms of ichthyosis and keratodermas, comprise a phenotypically heterogeneous group of diseases which can be divided into syndromic and non-syndromic forms. In the non-syndromic forms, the clinical manifestations are limited to the c...
Autores principales: | UITTO, Jouni, YOUSSEFIAN, Leila, SAEIDIAN, Amir Hossein, VAHIDNEZHAD, Hassan |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Society for Publication of Acta Dermato-Venereologica
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9128965/ https://www.ncbi.nlm.nih.gov/pubmed/32147742 http://dx.doi.org/10.2340/00015555-3431 |
Ejemplares similares
-
A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
por: Youssefian, Leila, et al.
Publicado: (2017) -
The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series
por: Youssefian, Leila, et al.
Publicado: (2018) -
Hypotrichosis with juvenile macular dystrophy: Combination of whole‐genome sequencing and genome‐wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole‐exome sequencing—A lesson from next‐generation sequencing
por: Saeidian, Amir Hossein, et al.
Publicado: (2019) -
Genetic Predisposition to Numerous Large Ulcerating Basal Cell Carcinomas and Response to Immune Therapy
por: Dasgeb, Bahar, et al.
Publicado: (2021) -
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification
por: Ralph, Douglas, et al.
Publicado: (2022)