Associated Papers
A TMEM260 Biallelic Deletion Underlies Truncus Arteriosus.
Enomoto Y et al.
Molecular Syndromology, 2025
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.
Yaoita H et al.
Journal of Human Genetics, 2024
The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.
Inoue T et al.
Journal of Human Genetics, 2024
38409496 (PubMed )
Supplement: 10038_2024_1225_MOESM7_ESM.xlsx › Sheet3
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.
Larsen ISB et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
A novel homozygous variant of TMEM260 induced cardiac malformation and neurodevelopmental abnormality: case report and literature review.
Peng M et al.
Frontiers in Medicine, 2023
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
Pagnamenta AT et al.
Clinical Genetics, 2022
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
Kagan M et al.
Frontiers in Genetics, 2022
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.
Ta-Shma A et al.
American Journal of Human Genetics, 2017
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