Cargando…
Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) due to transglutaminase-1 gene (TGM1) mutations leading to a temperature sensitive phenotype. It is characterized by dark-grey or brownish scaling restricted to the “bathing suit” areas. We report two...
Autores principales: | Sathishkumar, Dharshini, Peter, Dincy, Pulimood, Susanne, Wiegmann, Henning, Valentin, Frederic, Thomas, Meera, Hennies, Hans Christian, Oji, Vinzenz |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332984/ https://www.ncbi.nlm.nih.gov/pubmed/30693114 http://dx.doi.org/10.1155/2018/3140473 |
Ejemplares similares
-
Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation
por: Esperón-Moldes, Uxia, et al.
Publicado: (2020) -
Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family
por: Karim, Noreen, et al.
Publicado: (2019) -
Collodion Baby to Bathing Suit Ichthyosis: A 6-Year Follow-Up
por: Grover, Chander, et al.
Publicado: (2022) -
Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis
por: Chulpanova, Daria S., et al.
Publicado: (2022) -
Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis
por: TANI, Naomi, et al.
Publicado: (2020)