Publications

Cordeddu V et al. Mutations in ZBTB20 cause Primrose syndrome. Nat Genet. 2014;46(8):815-7. PMID: 25017102.

Mattioli F et al. Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism. Am J Med Genet A. 2016;170(6):1626-9. PMID: 27061120.

Cleaver R et al. Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.Am J Med Genet A. 2019;179(3):344-349. PMID: 30637921.

Grímsdóttir S et al. Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature. Clin Dysmorphol. 2019;28(1):41-45. PMID: 30256248.

Juven A et al. Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.Eur J Hum Genet. 2020;28(8):1044-1055. PMID: 32071410.

Yamamoto-Shimojima K et al. Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation. Am J Med Genet A. 2020;182(3):521-526. PMID: 31821719.

Arora V et al. Primrose Syndrome. 2021 In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 33956417.

Li J et al. Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature. Mol Genet Genomic Med. 2024;12(1):e2304. PMID: 38087819.