Associated Papers
Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.
Liu JW et al.
Molecular Genetics & Genomic Medicine, 2024
38702946 (PubMed )
Supplement: MGG3-12-e2431-s001.docx
Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations
Saat H et al.
Medeniyet Medical Journal, 2022
A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
Montalván-Suárez M et al.
Molecular Genetics & Genomic Medicine, 2019
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
Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families.
Wakil SM et al.
International Journal of Dermatology, 2016
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