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Case Report: Novel rare mutation c.6353C > G in the ABCA12 gene causing harlequin ichthyosis identified by whole exome sequencing.
Front Pediatr. 2023 Feb 15;11:1128716. doi: 10.3389/fped.2023.1128716. eCollection 2023.
Front Pediatr. 2023.
PMID: 36873642
Free PMC article.
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