TAB2 haploinsufficiency

ABSTRACT: We identified t a series of 12 individuals from nine families with loss-of-function variants in TAB2 and a multi-system phenotype. This condition emerges as a novel recognizable syndrome with cardiovascular anomalies, facial dysmorphisms and multiple connective tissue features.

ORGANISM(S): Homo sapiens

PROVIDER: GSE180329 | GEO | 2022/02/08

REPOSITORIES: GEO