A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndrome

We report a three-year-old child with VEODS having borderline intellectual disability due to a novel splice site variant causing exon 6 skipping and reduced POLA1 expression.PMID:34119699 | DOI:10.1016/j.ejmg.2021.104261

Source: European Journal of Medical Genetics - June 13, 2021 Category: Genetics & Stem Cells Authors: Mounika Endrakanti Sumedha Saluja Abdul S Ethayathulla Savita Sapra Ashwin Dalal Jayanth Kumar Palanichamy Neerja Gupta Source Type: research