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

• Main Authors: Guoqiang Li (Author), Yiyao Chen (Author), Xu Han (Author), Niu Li (Author), Shuyuan Li (Author)
• Formato: Libro
• Publicado: BMC, 2024-07-01T00:00:00Z.
• Subjects: article
• Acceso en liña: 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...