Misbahuddin M Rafeeq Hussam Aly Sayed Murad Najumuddin Samee Ullah Zaheer Ahmed Qamre Alam Muhammad Bilal Alaa Hamed Habib Ziaullah M Sain Muhammad Jawad Khan Muhammad Umair
10.3389/fgene.2022.1117500
Front Genet
2023 Jan 17;13:1117500.
tbx2 wes chondrodysplasia nonsense mutation novel variant
CC BY
https://pubmed.ncbi.nlm.nih.gov/36733940/
Case Reports
PMC9888409
36733940
Case report: A novel de novo loss of function variant in the DNA-binding domain of TBX2 causes severe osteochondrodysplasia
2023