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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...

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Detalles Bibliográficos
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