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

Martha Montalván-SuárezUxia Saraiva Esperón-MoldesLaura Rodríguez-PazosAndrés Ordóñez-UgaldeFernanda MoscosoNora Ugalde-NoritzLuis SantoméLaura FachalDaniel Tettamanti-MirandaJuan Carlos RuizManuel GinarteAna Vega

Published in: Molecular genetics & genomic medicine (2019)

This case expands the spectrum of ABCA12 reported disease-causing variants which is important to unravel genotype-phenotype correlations and highlights the importance of missense variants in the development of HI.

Keyphrases

copy number
case report
neoadjuvant chemotherapy
intellectual disability
locally advanced
autism spectrum disorder