Associated Papers
A TMEM260 Biallelic Deletion Underlies Truncus Arteriosus.
Enomoto Y et al.
Molecular Syndromology, 2025
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
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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