Results 161 to 170 of about 528,814 (282)

Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report [PDF]

, 2022
Li Han, Lijuan Qian, Nan Xu, Li Huang, Lixing Qiao   +4 more
openalex   +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, Tuyan İlhan, Sinan Karadeniz, Orhan Gelişen   +3 more
doaj  

Isotretinoin Treatment for Autosomal Recessive Congenital Ichthyosis in a Golden Retriever. [PDF]

Vet Sci, 2022
Petak A, Šoštarić-Zuckermann IC, Hohšteter M, Lemo N.   +3 more
europepmc   +1 more source

CONGENITAL ICHTHYOSIS [PDF]

The American Journal of the Medical Sciences, 1895
openaire   +1 more source

Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: A report from the National Registry for Ichthyosis and Related Skin Disorders

, 2016
Catherine S. Yang, Hyemin Pomerantz, Kathleen Mannava, Jessica Corwin, Martin A. Weinstock, Philip Fleckman, John J. DiGiovanna, Leslie Robinson‐Bostom   +7 more
openalex   +2 more sources

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, Teng JMC, Guenthner S, Bunick CG, Kempers S, Eads K, Castelo-Soccio L, Mendelsohn AM, Raiz J, Murrell DF.   +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, Hu Y, Lu J, Zhao P, Zhang X, Tan L, Li J, Xiao C, Zeng L, He X.   +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, Fock RA, Almeida N, Cavalcanti T, Villela D, Perez ABA, Valle D, Wohler E, Sobreira NLM, Raskin S.   +9 more
europepmc   +1 more source

[Congenital ichthyosis].

Wiadomosci lekarskie (Warsaw, Poland : 1960), 1983
W, Maszkiewicz, T, Bagińska, D, Manerowska   +2 more
openaire   +3 more sources

Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis [PDF]

, 2016

core   +1 more source