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...

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Principais autores:	Jia‐Wei Liu, Kexin Guo, Rui Zhang, Rongrong Wang, Dong‐Lai Ma, Xue Zhang
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Wiley 2024-05-01
סדרה:	Molecular Genetics & Genomic Medicine
נושאים:	ABCA12 autosomal recessive congenital ichthyosis (ARCI) compound heterozygous variants congenital ichthyosiform erythroderma (CIE) genotype–phenotype correlations
גישה מקוונת:	https://doi.org/10.1002/mgg3.2431
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!