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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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Publicat a: | Eur J Hum Genet |
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Autors principals: | , , , , , , |
Format: | Artigo |
Idioma: | Inglês |
Publicat: |
Springer International Publishing
2020
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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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