Publications

Aldahmesh MA et al. Homozygous null mutation in ODZ3 causes microphthalmia in humans. Genet Med. 2012 Nov;14(11):900-4. PMID: 22766609.

Chassaing N et al. Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. Am J Med Genet A. 2016 Jul;170(7):1895-8. PMID: 27103084.

Singh B et al. Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum. Eur J Med Genet. 2019 Jan;62(1):61-64. PMID: 29753094.

Stephen J et al. Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia.Am J Med Genet A. 2018 Dec;176(12):2930-2933. PMID: 30513139.

Islam F et al. Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.Clin Genet. 2020 Nov;98(5):499-506. PMID: 32799327.

Gholami Yarahmadi S, et al. Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia.Clin Case Rep. 2022 Mar 8;10(3):e05532. PMID: 35280100.

Zhou Y et al. Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient.Mol Genet Genomic Med. 2022 Jun;10(6):e1948. PMID: 35397152.

Lu F et al. Case report: Expansion of phenotypic and genotypic data in TENM3-related syndrome: Report of two cases.Front Pediatr. 2023 Feb 24;11:1111771. PMID: 36911040.

Vural O et al. Expanding the phenotypic and genotypic spectrum of TENM3-related syndromic microphthalmia. Ophthalmic Genet. 2026 Jun 18:1-5. PMID: 42315977.