Associated Papers
A TMEM260 Biallelic Deletion Underlies Truncus Arteriosus.
Enomoto Y et al.
Molecular Syndromology, 2025
A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus.
Saijo N et al.
American Journal of Medical Genetics. Part A, 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
PHACES-like syndrome with TMEM260 compound heterozygous variants.
Kuroda Y et al.
American Journal of Medical Genetics. Part A, 2023
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