Article
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Human molecular genetics - 15 Jul 2018
Liu Ning, Schoch Kelly, Luo Xi, Pena Loren D M, Bhavana Venkata Hemanjani, Kukolich Mary K, Stringer Sarah, Powis Zöe, Radtke Kelly, Mroske Cameron, Deak Kristen L, McDonald Marie T, McConkie-Rosell Allyn, Markert M Louise, Kranz Peter G, Stong Nicholas, Need Anna C, Bick David, Amaral Michelle D, Worthey Elizabeth A, Levy Shawn, Wangler Michael F, Bellen Hugo J, Shashi Vandana, Yamamoto Shinya
Abstract excerpt
The 17 genes of the T-box family are transcriptional regulators that are involved in all stages of embryonic development, including craniofacial, brain, heart, skeleton and immune system. Malformation syndromes have been linked to many of the T-box genes. For example, haploinsufficiency of TBX1 i...
Topics
- Adult
- Animals
- Cardiovascular Abnormalities
- Cardiovascular System
- Child
- Craniofacial Abnormalities
- Developmental Disabilities
- DiGeorge Syndrome
- Disease Models, Animal