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

Abstract Background Ichthyosis is a common keratotic skin disease with high clinical, etiological and genetic heterogeneity. There are four types of non‐syndromic hereditary ichthyoses, among which autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of recessive Mendelian disor...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Jia‐Wei Liu, Kexin Guo, Rui Zhang, Rongrong Wang, Dong‐Lai Ma, Xue Zhang
Format: Artigo
Sprache:Inglês
Veröffentlicht: Wiley 2024-05-01
Schriftenreihe:Molecular Genetics & Genomic Medicine
Schlagworte:
ABCA12
autosomal recessive congenital ichthyosis (ARCI)
compound heterozygous variants
congenital ichthyosiform erythroderma (CIE)
genotype–phenotype correlations
Online-Zugang:https://doi.org/10.1002/mgg3.2431
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