Article
Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis.
Genes - 5 Mar 2021
Fozia Fozia, Nazli Rubina, Alam Khan Sher, Bari Ahmed, Nasir Abdul, Ullah Riaz, Mahmood Hafiz Majid, Sohaib Muhammad, Alobaid Abdulrahman, Ansari Siddique A, Basit Sulman, Khan Saadullah
Abstract excerpt
BACKGROUND: Ichthyoses are a large group of hereditary cornification disorders, which are both clinically and etiologically heterogeneous and affect mostly all the skin surface of the patients. Ichthyosis has its origin in an ancient Greek word "ichthys" meaning fish, this is because the ichthyosis patients have dry, thickened, and scaly skin. There is an excess accumulation of epidermal cells resulting in the...
Topics
- Adult
- Case-Control Studies
- Child
- Consanguinity
- Female
- Filaggrin Proteins
- Genetic Predisposition to Disease
- Homozygote
- Humans
- Ichthyosis