Results 131 to 140 of about 248,586 (158)

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis. [PDF]

PLoS One, 2021
Charfeddine C, Laroussi N, Mkaouar R, Jouini R, Khayat O, Redissi A, Mosbah A, Dallali H, Chedly Debbiche A, Zaouak A, Fenniche S, Abdelhak S, Hammami-Ghorbel H.   +12 more
europepmc   +1 more source

Mimicking the LOX-Related Autosomal Recessive Congenital Ichthyosis Skin Disease Using a CRISPR-Cas9 System and Unravelling 12S-LOX Function in the Skin. [PDF]

Dermatopathology (Basel)
Simard-Bisson C, Larochelle S, Moulin VJ, Fruteau de Laclos B.   +3 more
europepmc   +1 more source

Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis. [PDF]

Int J Womens Dermatol
Zaouak A, Jouini W, Abdessalem G, Abdelhak S, Hammami H, Charfeddine C, Fenniche S.   +6 more
europepmc   +1 more source

A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay. [PDF]

Front Pediatr
Zhu L, Zhou R, Zhang L, Chen M, Zhang S, Huang X, Shi Y, Ding H.   +7 more
europepmc   +1 more source

Autosomal recessive congenital ichthyosis caused by a novel variant in cornifelin gene: A case report. [PDF]

JAAD Case Rep
Almalki B, Alghamdi Y, Aman A, Alamri S, Alshareef A, Alraddadi A.   +5 more
europepmc   +1 more source

Congenital ichthyosis associated with Trichophyton rubrum tinea, imitating drug hypersensitivity reaction. [PDF]

Med Mycol Case Rep, 2020
Szlávicz E, Németh C, Szepes É, Gyömörei C, Gyulai R, Lengyel Z.   +5 more
europepmc   +1 more source

Recognition and management of congenital ichthyosis in a low-income setting. [PDF]

BMJ Case Rep, 2019
Saso A, Dowsing B, Forrest K, Glover M.
europepmc   +1 more source

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Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India

Pediatric Dermatology, 2022
Sumita Danda, Dr. Dharshini Sathishkumar, Thenmozhi Mani   +2 more
exaly  

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

Genes, 2023
Regina Christine Betz, Andreas Zimmer, Katalin Komlósi   +2 more
exaly