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Case report: A novel de novo loss of function variant in the DNA-binding domain of TBX2 causes severe osteochondrodysplasia

Background: T-box family members are transcription factors characterized by highly conserved residues corresponding to the DNA-binding domain known as the T-box. TBX2 has been implicated in several developmental processes, such as coordinating cell fate, patterning, and morphogenesis of a wide range...

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Detalles Bibliográficos
Autores principales:	Rafeeq, Misbahuddin M., Murad, Hussam Aly Sayed, Najumuddin, Ullah, Samee, Ahmed, Zaheer, Alam, Qamre, Bilal, Muhammad, Habib, Alaa Hamed, Sain, Ziaullah M., Khan, Muhammad Jawad, Umair, Muhammad
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9888409/ https://www.ncbi.nlm.nih.gov/pubmed/36733940 http://dx.doi.org/10.3389/fgene.2022.1117500

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