A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype ‐phenotype correlations

ConclusionThis case expands the spectrum ofABCA12 reported disease ‐causing variants which is important to unravel genotype‐phenotype correlations and highlights the importance of missense variants in the development of HI.

Source: Molecular Genetics & Genomic Medicine - March 26, 2019 Category: Genetics & Stem Cells Authors: Martha Montalv án‐Suárez, Uxia Saraiva Esperón‐Moldes, Laura Rodríguez‐Pazos, Andrés Ordóñez‐Ugalde, Fernanda Moscoso, Nora Ugalde‐Noritz, Luis Santomé, Laura Fachal, Daniel Tettamanti‐Miranda, Juan Carlos Ruiz, Manuel Ginart Tags: ORIGINAL ARTICLE Source Type: research