Ontology highlight
ABSTRACT:
ORGANISM(S): Mus musculus
SUBMITTER: Tingwei Guo
PROVIDER: E-GEOD-35013 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Human molecular genetics 20140404 16
Velo-cardio-facial/DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a congenital anomaly disorder characterized by craniofacial anomalies including velo-pharyngeal insufficiency, facial muscle hypotonia and feeding difficulties, in part due to hypoplasia of the branchiomeric muscles. Inactivation of both alleles of mouse Tbx1, encoding a T-box transcription factor, deleted on chromosome 22q11.2, results in reduction or loss of branchiomeric muscles. To identify downstream pathways, ...[more]