Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype–phenotype correlations and literature review

Authors: Jia‐Wei Liu, Kexin Guo, Rui Zhang, Rongrong Wang, Dong‐Lai Ma, Xue Zhang

Source: Molecular Genetics & Genomic Medicine, Vol 12, Iss 5, Pp n/a-n/a (2024)

Subject Terms: ABCA12, autosomal recessive congenital ichthyosis (ARCI), compound heterozygous variants, congenital ichthyosiform erythroderma (CIE), genotype–phenotype correlations, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/d05577da968d4a2fb85ff0763d24f03f