Article
Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin.
International journal of dermatology - 1 May 2023
Khan Niamatullah, Shah Khadim, Fozia Fozia, Khan Sher A, Muhammad Nazif, Nasir Abdul, Ahmad Ijaz, Rehman Zia U, Jan Abid, Muhammad Noor, Khan Saadullah
Abstract excerpt
BACKGROUND: Congenital ichthyosis is a diverse group of keratinization disorders associated with generalized scaling of skin of varying severity. The non-syndromic forms of congenital ichthyosis are further grouped into common ichthyosis (ichthyosis vulgaris and X-linked ichthyosis), autosomal recessive congenital ichthyosis, and keratopathic ichthyosis. OBJECTIVE: To identify sequence variants involved in...
Topics
- Humans
- Ichthyosiform Erythroderma, Congenital
- Ichthyosis
- Ichthyosis, Lamellar
- Mutation
- Pakistan