Results 131 to 140 of about 8,173 (220)

Harlequin ichthyosis in a newborn: a rare and severe congenital ichthyosis. [PDF]

Pan Afr Med J
Tamgadge A, Gomase K.
europepmc   +1 more source

Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis. [PDF]

Clin Case Rep, 2021
Tang H, Shi X, Zhang G.
europepmc   +1 more source

A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma [PDF]

, 2014
Barnicoat, A, Drury, S, Harper, JI, Khan, A, Kinsler, VA, Lench, N, O'Shaughnessy, RF, Rukaite, G, Waelchli, R   +8 more
core   +1 more source

Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis. [PDF]

Int J Mol Sci, 2022
Chulpanova DS, Shaimardanova AA, Ponomarev AS, Elsheikh S, Rizvanov AA, Solovyeva VV.   +5 more
europepmc   +1 more source

Eye involvement in a series of 94 young patients with congenital ichthyosis: Importance of early ophthalmological referral. [PDF]

JAAD Int
Blanco-Calvo N, Núñez-Reiz A, Vals-Ferrán I, Malhotra R, Hernández-Martín A.   +4 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

Sjögren-Larsson syndrome in two brothers: a case report [PDF]

, 2009
Farid Rezaei Moghaddam, Farid Safar, Mahsa Asheghan, Zahra Reza Soltani, Fatemeh Dehghani Zade   +4 more
core   +1 more source

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

[Congenital ichthyosis].

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

Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis. [PDF]

Front Immunol
Sefer AP, Catak MC, An I, Keser Ozturk N, Baykal Selcuk L, Dincer OS, Benamar M, Getachew F, Schmitz-Abe K, Agrawal PB, Bayram Catak F, Erman B, Bilgic Eltan S, Karakoc Aydiner E, Ozen A, Chatila T, Baris S.   +16 more
europepmc   +1 more source