Concurrent of compound heterozygous variant of a novel in-frame deletion and the common hypomorphic haplotype in TBX6 and inherited 17q12 microdeletion in a fetus

• Autori principali: Guoqiang Li (Autore), Yiyao Chen (Autore), Xu Han (Autore), Niu Li (Autore), Shuyuan Li (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2024-07-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Abstract Background TBX6, a member of the T-box gene family, encodes the transcription factor box 6 that is critical for somite segmentation in vertebrates. It is known that the compound heterozygosity of disruptive variants in trans with a common hypomorphic risk haplotype (T-C-A) in the TBX6 gene...