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...

Descripción completa

Detalles Bibliográficos

Autores principales:	Jia‐Wei Liu, Kexin Guo, Rui Zhang, Rongrong Wang, Dong‐Lai Ma, Xue Zhang
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Wiley 2024-05-01
Colección:	Molecular Genetics & Genomic Medicine
Materias:	ABCA12 autosomal recessive congenital ichthyosis (ARCI) compound heterozygous variants congenital ichthyosiform erythroderma (CIE) genotype–phenotype correlations
Acceso en línea:	https://doi.org/10.1002/mgg3.2431
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!