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A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4

The T-box4 (TBX4) gene (OMIM *601719) belongs to the T-box family of transcription regulators that share a conserved homology domain and are expressed at specific sites during various stages of embryonic development. Tbx4 has been found to be a crucial transcriptional regulator in embryonic hindlimb...

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Dades bibliogràfiques
Publicat a:Eur J Hum Genet
Autors principals: Ranganath, Prajnya, Perala, Sreeja, Nair, Lekshmi, Pamu, Pramod Kumar, Shankar, Aparna, Murugan, Sakthivel, Dalal, Ashwin
Format: Artigo
Idioma:Inglês
Publicat: Springer International Publishing 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7170885/
https://ncbi.nlm.nih.gov/pubmed/31965066
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0572-5
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