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 ichthyosis are further grouped into common ichthyosis (ichthyosis vulgaris and X‐linked ichthyosis), autosomal recess...

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Veröffentlicht in:	International journal of dermatology 2023-05, Vol.62 (5), p.672-680
Hauptverfasser:	Khan, Niamatullah, Shah, Khadim, Fozia, Fozia, Khan, Sher A., Muhammad, Nazif, Nasir, Abdul, Ahmad, Ijaz, Rehman, Zia U., Jan, Abid, Muhammad, Noor, Khan, Saadullah
Format:	Artikel
Sprache:	eng
Schlagworte:	Computer applications Gene deletion Gene expression Genetic counseling Genetic screening Genotyping Humans Ichthyosiform Erythroderma, Congenital - genetics Ichthyosis Ichthyosis - genetics Ichthyosis, Lamellar - genetics Keratinization Mutation Pakistan Skin diseases
Online-Zugang:	Volltext
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