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Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature.
Li J, Zhang C, Tian X, Zhou B, Chen X, Wang Y, Hao S, Hui L, Meng Z. Li J, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2304. doi: 10.1002/mgg3.2304. Epub 2023 Dec 12. Mol Genet Genomic Med. 2024. PMID: 38087819 Free PMC article. Review.
METHOD: We reported a case of a Chinese boy with clinical symptoms resembling Primrose Syndrome, and performed genetic etiology analysis of the proband's family through Trio whole exome sequencing. RESULT: A novel missense variant c.1927T>A(p.F643I) in exon 14 of …
METHOD: We reported a case of a Chinese boy with clinical symptoms resembling Primrose Syndrome, and performed genetic etiolog …
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.
Cleaver R, Berg J, Craft E, Foster A, Gibbons RJ, Hobson E, Lachlan K, Naik S, Sampson JR, Sharif S, Smithson S; Deciphering Developmental Disorders Study; Parker MJ, Tatton-Brown K. Cleaver R, et al. Am J Med Genet A. 2019 Mar;179(3):344-349. doi: 10.1002/ajmg.a.61024. Epub 2019 Jan 13. Am J Med Genet A. 2019. PMID: 30637921 Review.
Primrose syndrome is a rare autosomal dominant condition caused by heterozygous missense variants within ZBTB20. ...Based upon these clinical data we discuss our current management of patients with Primrose syndrome....
Primrose syndrome is a rare autosomal dominant condition caused by heterozygous missense variants within ZBTB20. ...Based upon
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
Mattioli F, Piton A, Gérard B, Superti-Furga A, Mandel JL, Unger S. Mattioli F, et al. Am J Med Genet A. 2016 Jun;170(6):1626-9. doi: 10.1002/ajmg.a.37645. Epub 2016 Apr 7. Am J Med Genet A. 2016. PMID: 27061120 Review.
The cardinal features of Primrose syndrome (MIM 259050) are dysmorphic facial features, macrocephaly, and intellectual disability, as well as large body size, height and weight, and calcified pinnae. ...Review of the literature reveals another Primrose syn
The cardinal features of Primrose syndrome (MIM 259050) are dysmorphic facial features, macrocephaly, and intellectual disabil …
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.
Juven A, Nambot S, Piton A, Jean-Marçais N, Masurel A, Callier P, Marle N, Mosca-Boidron AL, Kuentz P, Philippe C, Chevarin M, Duffourd Y, Gautier E, Munnich A, Rio M, Rondeau S, El Chehadeh S, Schaefer É, Gérard B, Bouquillon S, Delorme CV, Francannet C, Laffargue F, Gouas L, Isidor B, Vincent M, Blesson S, Giuliano F, Pichon O, Le Caignec C, Journel H, Perrin-Sabourin L, Fabre-Teste J, Martin D, Vieville G, Dieterich K, Lacombe D, Denommé-Pichon AS, Thauvin-Robinet C, Faivre L. Juven A, et al. Eur J Hum Genet. 2020 Aug;28(8):1044-1055. doi: 10.1038/s41431-020-0582-3. Epub 2020 Feb 18. Eur J Hum Genet. 2020. PMID: 32071410 Free PMC article. Review.
Primrose syndrome is characterized by variable intellectual deficiency, behavior disorders, facial features with macrocephaly, and a progressive phenotype with hearing loss and ectopic calcifications, distal muscle wasting, and contractures. ...
Primrose syndrome is characterized by variable intellectual deficiency, behavior disorders, facial features with macrocephaly,
Testicular cancer in a patient with Primrose syndrome.
Mathijssen IB, van Hasselt-van der Velde J, Hennekam RC. Mathijssen IB, et al. Eur J Med Genet. 2006 Mar-Apr;49(2):127-33. doi: 10.1016/j.ejmg.2005.06.001. Epub 2005 Jun 23. Eur J Med Genet. 2006. PMID: 16530709 Review.
All features are similar to those earlier described in patients with Primrose syndrome. In addition he developed a germ cell tumour of his right testicle at age 27 years. A comparison is provided between the main findings in the four previously reported cases with …
All features are similar to those earlier described in patients with Primrose syndrome. In addition he developed a germ cell t …