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A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
Mol Genet Genomic Med. 2019 May;7(5):e608. doi: 10.1002/mgg3.608. Epub 2019 Mar 27.
Mol Genet Genomic Med. 2019.
PMID: 30916489
Free PMC article.
Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters.
Esperón-Moldes US, Ginarte M, Santamariña M, Rodríguez-Lage B, Rodríguez-Pazos L, Vega A.
Esperón-Moldes US, et al.
Acta Paediatr. 2019 Apr;108(4):763-765. doi: 10.1111/apa.14694. Epub 2019 Feb 1.
Acta Paediatr. 2019.
PMID: 30536735
No abstract available.
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