Compound Heterozygous ABCA12 Variants Identified in a Chinese Patient with Congenital Ichthyosiform Erythroderma: Advancing Genotype–phenotype Correlations and Literature Review
Molecular Genetics & Genomic Medicine（2024）
Key words
ABCA12,autosomal recessive congenital ichthyosis (ARCI),compound heterozygous variants,congenital ichthyosiform erythroderma (CIE),genotype-phenotype correlations
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