Search

Your search keyword '"Srikumar, Afshan"' showing total 1 results
Start Over Author "Srikumar, Afshan" Topic differential diagnosis
1 results on '"Srikumar, Afshan"'

1. Genetic diagnosis of kindler syndrome, a rare form of genodermatosis in a newborn with identification of a nonsense mutation, c. 328C > T, in the FERMT1 gene in the Indian population.

Author

Srikumar, Afshan, Lava, Chaitra, and Udumudi, Anuradha

Subjects
*SKIN disease diagnosis, *GENETIC disorder diagnosis, *GENETIC mutation, *GENETIC testing, *DIFFERENTIAL diagnosis, *EPIDERMOLYSIS bullosa, *GENETIC counseling
Abstract

The article provides a case report of a 7-day-old newborn with Kindler syndrome (KS), a rare form of genodermatosis, diagnosed through genetic testing that revealed a novel nonsense mutation (c. 328C > T) in the FERMT1 gene. Topic include the study emphasizes the utility of next-generation sequencing (NGS) in establishing a definitive diagnosis, ruling out differential diagnoses, and enabling genetic counseling for families with a history of KS.

Published
2023
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results