PhenomeGene — Human Disease Gene Website SeriesPOLA1 VEODS

Publications

Van Esch H et al. Defective DNA polymerase alpha-primase leads to X-linked intellectual disability associated with severe growth retardation, microcephaly, and hypogonadism. Am J Hum Genet. 2019;104(5):957-967. PMID: 31006512.

Endrakanti M et al. A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndrome. Eur J Med Genet. 2021;64(8):104261. PMID: 34119699.

Starokadomskyy P et al. Immune dysfunction in Mendelian disorders of POLA1 deficiency. J Clin Immunol. 2021;41(2):285-293. PMID: 33392852.