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Article

TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice

8 Oct 2018

Abstract excerpt

Congenital vertebral malformations (CVMs) are associated with human TBX6 compound inheritance that combines a rare null allele and a common hypomorphic allele at the TBX6 locus. Our previous in vitro evidence suggested that this compound inheritance resulted in a TBX6 gene dosage of less than haploinsufficiency (i.e. <50%) as a potential mechanism of TBX6-associated CVMs. To further investigate this pathogenetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 30307510
DOI: 10.1093/hmg/ddy358

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