Associated Papers
Familial hypertrophic cardiomyopathy associated with TBX1 variation.
Zhang J et al.
European Journal of Medical Genetics, 2025
CLINICAL AND GENETIC FINDINGS IN A CHINESE COHORT OF PATIENTS WITH DIGEORGE SYNDROME-RELATED HYPOPARATHYROIDISM.
Wang Y et al.
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2020
Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing.
Westphal DS et al.
Clinical Genetics, 2019
TBX1 loss-of-function mutation contributes to congenital conotruncal defects.
Zhang M et al.
Experimental and Therapeutic Medicine, 2018
A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity.
Xu Y et al.
Scientific Reports, 2017
Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.
Xu YJ et al.
Bmc Medical Genetics, 2014
Select a paper to view details