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
PHACES-like syndrome with TMEM260 compound heterozygous variants.
Kuroda Y et al.
American Journal of Medical Genetics. Part A, 2023
Select a paper to view details