Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy. [PDF]
Front Genet, 2022 Uniparental disomy (UPD) is a rare genetic event caused by errors during gametogenesis and fertilization leading to two copies of a chromosome or chromosomal region inherited from one parent.
Zhang L +9 more
europepmc +2 more sources
Ichthyosis (concept, pathohistology, clinical picture, treatment)
Vestnik Dermatologii i Venerologii, 2021 Ichthyosis is a skin disease that is hereditary, has pronounced symptoms in the form of a violation of the skin, and the presence of formations resembling fish scales.
Tatyana Gennadyevna Takhtarova +3 more
doaj +1 more source
Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans
PLoS Genetics, 2013 Franz P W Radner, Judith Fischer
exaly +3 more sources
Harlequin Ichthyosis: A Rare Case of Congenital Ichthyosis. [PDF]
J Obstet Gynaecol India, 2019 Kataria S, Ajmani SN.
europepmc +4 more sources
CONGENITAL ICHTHYOSIS (CLINICAL CASE)
Медицина в Кузбассе, 2021 The word «ichthyosis» comes from the Greek root «ichthys», which means «fish», and is manifested by the characteristic peeling of the skin, resembling the scales of a fish. In patients with ichthyosis, the barrier function of the skin is impaired.
Ольга Борисовна Зарубина +9 more
doaj +1 more source
Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis. [PDF]
Clin Case Rep, 2021 Autosomal recessive congenital ichthyosis (ARCI) is a rare form of keratinization disorder of the skin, which can be caused by mutations in 14 ARCI genes.
Tang H, Shi X, Zhang G.
europepmc +2 more sources
Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance. [PDF]
Mol Syndromol, 2021 The term autosomal recessive congenital ichthyosis (ARCI) is the subgroup of ichthyosis, which describes a highly heterogeneous group of genetic disorders of the skin characterized by cornification and defective keratinocytes differentiation associated ...
Ahmad F +12 more
europepmc +2 more sources
Autosomal Recessive Congenital Ichthyosis [PDF]
Journal of Investigative Dermatology, 2009 Recent progress in the genetics of autosomal recessive congenital ichthyosis (ARCI) has illustrated the power of genetic strategies for the investigation of newly recognized metabolic pathways and for the mechanisms of barrier function in normal skin. Parallel biochemical studies have elucidated important functional aspects of these findings (Brash et ...
Hubert Scharnagl +199 more
openaire +3 more sources
A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs
PLoS ONE, 2017 Autosomal recessive congenital ichthyosis in the American bulldog is characterized by generalized scaling and erythema with adherent scale on the glabrous skin.
Margret L. Casal +4 more
openalex +3 more sources
Role of Patient Support Organizations and Collaborative Genomics Programs in Enabling Participatory Medicine for Rare Diseases in India: A Case Study of Autosomal Recessive Congenital Ichthyosis. [PDF]
Indian Dermatol Online JTandon S +3 more
europepmc +2 more sources