A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations
Montalván‐Suárez, Martha, Esperón‐Moldes, Uxia Saraiva, Rodríguez‐Pazos, Laura, Ordóñez‐Ugalde, Andrés, Moscoso, Fernanda, Ugalde‐Noritz, Nora, Santomé, Luis, Fachal, Laura, Tettamanti‐Miranda, DanielЖурнал:
Molecular Genetics & Genomic Medicine
DOI:
10.1002/mgg3.608
Date:
March, 2019
Файл:
PDF, 910 KB
2019
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