Associated Papers
Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.
Liu JW et al.
Molecular Genetics & Genomic Medicine, 2024
38702946 (PubMed )
Supplement: MGG3-12-e2431-s001.docx
A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
Montalván-Suárez M et al.
Molecular Genetics & Genomic Medicine, 2019
Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma.
Fukuda S et al.
The British Journal of Dermatology, 2012
Recent advances in the genetics and management of harlequin ichthyosis.
Ahmed H et al.
Pediatric Dermatology, 0
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