Results 121 to 130 of about 6,529 (236)

Triallelic Inheritance of TGM1 and ALOXE3 Mutations Associated with Severe Phenotype of Ichtyosis in an Iranian Family - A Case Report

open access: yesIranian Journal of Public Health, 2015
Lamellar ichthyosis is one form of congenital autosomal recessive ichthyosis. To date, seven causative genes for ARCI have been identified. To understand further the genetic spectrum of the disease, we analyzed a four-generation Iranian family with ARCI ...
Mohammad Taghi AKBARI   +1 more
doaj  

UPDATED MOLECULAR GENETICS AND PATHOGENESIS OF ICHTHYOSES [PDF]

open access: yes, 2011
2011-08Research into the molecular genetics and pathomechanisms of ichthyoses have advanced considerably, resulting in the identification of several causative genes and molecules underlying the disease.
42169, AKIYAMA, MASASHI
core  

LAMELLAR ICHTHYOSIS: ONE CASE REPORT

open access: yesInternational Journal of Medical Reviews and Case Reports, 2019
Introduction: Ichthyosis is a heterogeneous group of skin disease characterized by generalized scaling. Lamellar ichthyosis is an autosomal recessive disorder with a mutation in the TGM 1 gene encodes the transglutaminase I protein was found. The scales reflect changes in epidermal differentiation.
openaire   +1 more source

A Topic Diathesis In Hereditary Ichthyosis Patients Attending A Tertiary Health Care Center In Saudi Arabia

open access: yesIndian Journal of Dermatology, 2004
The occurrence of atopic diathesis in hereditary ichthyosis (HI) has not been documented in Saudi patients. The atopic manifestations in histopathologically confirmed HI patients attending the dermatology clinic of king Fahad Hospital of the University ...
Al-Akloby Omar M Al-Amro
doaj  

The CONTROL study: A randomized, double-blind vehicle-controlled Phase 2b study of novel topical isotretinoin formulation demonstrates improvement in recessive X-linked and autosomal recessive lamellar congenital ichthyosis.

open access: yesJournal of American Academy of Dermatology, 2022
J. Teng   +10 more
semanticscholar   +1 more source

A case of self-healing collodion baby

open access: yesPrzegląd Dermatologiczny, 2021
Aleksandra Kitowska   +4 more
doaj   +1 more source

Corneal sensitivity in patients with lamellar ichthyosis

open access: yesEuropean Eye Research, 2022
Revan Yıldırım Karabağ
semanticscholar   +1 more source

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