Associated Papers
Factors predicting the occurrence of disease-causing variants on next-generation sequencing in children with steroid-resistant nephrotic syndrome - implications for resource-constrained settings.
Kaur A et al.
Pediatric Nephrology (berlin, Germany), 2023
Autosomal Recessive Congenital Ichthyosis and Steroid-Resistant Nephrotic Syndrome due to Homozygous Mutation in the ALOX12B gene: A Novel Association with Review of Literature.
Dawman L et al.
Journal of Pediatric Genetics, 2022
Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy.
Zhang L et al.
Frontiers in Genetics, 2022
Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.
Bastaki F et al.
International Journal of Dermatology, 2017
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.
Israeli S et al.
Clinical and Experimental Dermatology, 2013
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.
Eckl KM et al.
The Journal of Investigative Dermatology, 2009
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