Publications

Kaufman RL, Rimoin DL, Prensky AL, Sly WS. An oculocerebrofacial syndrome.Birth Defects Orig Artic Ser. 1971;7(1):135–138. PMID: 5006210.

Basel-Vanagaite L et al. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.Am J Hum Genet. 2012;91(6):998–1010. PMID: 23200864.

Flex E et al. Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome. J Med Genet. 2013;50(8):493–499. PMID: 23687348.

Basel-Vanagaite L et al. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Hum Genet. 2014;133(7):939–949. PMID: 24615390.

Pedurupillay CRJ et al. Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.Am J Med Genet A. 2015;167A(3):657–663. PMID: 25691420.

Yilmaz R et al. Kaufman oculocerebrofacial syndrome: novel UBE3B mutations and clinical features in four unrelated patients. Am J Med Genet A. 2018;176(1):187–193. PMID: 29160006.

Galarreta CI, Wigby KM, Jones MC. Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review.Clin Dysmorphol. 2019;28(4):175–183. PMID: 31162149.

Zaki MS et al. Blepharophimosis-ptosis-intellectual disability syndrome: a report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum. Am J Med Genet A. 2020;182(12):2857–2866. PMID: 32949109.

Fida M, Sinan I, Finan A. Whole exome sequencing achieved a definite diagnosis of Kaufman oculocerebrofacial syndrome in a Bahraini family: a case report.Clin Med Insights Pediatr. 2023;17:11795565231200130. PMID: 37745637.

Abdelfattah AS, Abu Saleh M. Kaufman. Oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients.Mol Cytogenet. 2026;19:1. PMID: 41318572.

Brabbing-Goldstein D, Basel-Salmon L. Kaufman. Oculocerebrofacial Syndrome. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993–2026.