Mehawej C, et al. POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment.Clin Immunol. 2023 Jun;251:109326. Epub 2023 Apr 6. PMID: 37030525.
Riestra MR, et al. Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome. J Clin Immunol. 2023 Dec 15;44(1):2. PMID: 38099988.
Chouery E, et al. POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments.Eur J Hum Genet. 2025;33(1):121-130. PMID: 39414923.
POLD3