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

European journal of human genetics : EJHG, Vol. 28, Issue 5, Pages 669-673, 2020

PMID: 31965066

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.

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  https://www.ncbi.nlm.nih.gov/pubmed/31965066

 

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