Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Case report: Expansion of phenotypic and genotypic data in TENM3-related syndrome: Report of two cases.
Lu F et al.
Frontiers in Pediatrics, 2023
Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient.
Zhou Y et al.
Molecular Genetics & Genomic Medicine, 2022
Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.
Mota A et al.
Oncogene, 2022
35145232 (PubMed )
Supplement: 41388_2022_2221_MOESM3_ESM.xlsx › EEC-5
Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia.
Gholami Yarahmadi S et al.
Clinical Case Reports, 2022
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
Plaisancié J et al.
Human Genetics, 2019
Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia.
Stephen J et al.
American Journal of Medical Genetics. Part A, 2018
Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.
Richardson R et al.
European Journal of Human Genetics : Ejhg, 2017
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.
Chassaing N et al.
American Journal of Medical Genetics. Part A, 2016
Homozygous null mutation in ODZ3 causes microphthalmia in humans.
Aldahmesh MA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012
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