Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family. [PDF]
Medicina (Kaunas), 2023 Almazroea A +9 more
europepmc +1 more source
Harlequin Ichtyosis: A Case Report
Gynecology Obstetrics & Reproductive Medicine, 2009 Harlequin ichthyosis is a severe and usually fatal congenital keratinization disorder. Although it has many characteristic findings on prenatal ultrasound such as a wide gaping mouth, intrauterine growth retardation, short limbs, joint contractures ...
Yetkin Karasu +3 more
doaj
Isotretinoin Treatment for Autosomal Recessive Congenital Ichthyosis in a Golden Retriever. [PDF]
Vet Sci, 2022 Petak A +3 more
europepmc +1 more source
Topical Isotretinoin (TMB-001) Treatment for 12 Weeks Did Not Result in Clinically Relevant Laboratory Abnormalities in Participants with Congenital Ichthyosis in the Phase 2b CONTROL Study. [PDF]
Dermatol Ther (Heidelb), 2023 Marathe K +9 more
europepmc +1 more source
Corrigendum: 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 Zhang L +9 more
europepmc +1 more source
A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2. [PDF]
Rev Paul Pediatr, 2023 Migliavacca MP +9 more
europepmc +1 more source
Social Media Listening in Congenital Ichthyosis: Quantitative and Qualitative Findings. [PDF]
JMIR Form ResSeverino-Freire M +6 more
europepmc +1 more source