Associated Papers
Genetic profiling of synchronous pituitary corticotroph adenomas.
Zhang D et al.
Pituitary, 2025
40544420 (PubMed )
Supplement: 11102_2025_1549_MOESM3_ESM.xlsx › Suppl_Table3
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
The genomic landscape of pediatric Ewing sarcoma.
Crompton BD et al.
Cancer Discovery, 2014
25186949 (PubMed )
Supplement: 21598290cd131037-sup-124608_2_supp_2613704_ndcnpj.xlsx › Mutation_List_PoN
The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation.
Akiyama M
Biochimica Et Biophysica Acta, 2014
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
A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis.
Walsh DM et al.
Scientifica, 2012
24278723 (PubMed )
Supplement: 649090.f1.pdf
The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis.
Akiyama M
Dermato-endocrinology, 2011
ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.
Akiyama M
Human Mutation, 2010
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