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Case Report: A Novel De Novo Loss of Function Variant in the DNA-binding Domain of TBX2 Causes Severe Osteochondrodysplasia.

Misbahuddin M. Rafeeq,Hussam Aly Sayed Murad, Najumuddin,Samee Ullah, Zaheer Ahmed,Qamre Alam,Muhammad Bilal,Alaa Hamed M. Habib,Ziaullah Sain,Muhammad Jawad Khan,Muhammad Umair

Frontiers in genetics（2023）

引用 1|浏览26
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关键词
TBX2,novel variant,nonsense mutation,chondrodysplasia,WES
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