Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin
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 …
with generalized scaling of skin of varying severity. The non‐syndromic forms of congenital …
Mendelian Disorders of Cornification (MEDOC) The Ichthyoses
A Hernández, R Gruber, V Oji - Harper's Textbook of Pediatric …, 2019 - Wiley Online Library
The heterogeneous and large group of ichthyoses is highly relevant for neonatologists,
paediatric dermatologists and paediatricians. The diseases are characterized by …
paediatric dermatologists and paediatricians. The diseases are characterized by …
Characterization of recessively inherited X-Linked ichthyosis in Bajaur Agency
Background: Recessively inherited X-linked Ichthyosis (XLI) is the second most generic form
of Ichthyosis and is characterized by scaly, dry, thickened, and mild erupted skin. It is caused …
of Ichthyosis and is characterized by scaly, dry, thickened, and mild erupted skin. It is caused …