Article

Prenatal imaging and whole-exome sequencing identifies novel tetratricopeptide repeat domain 7A mutation in fetus with gastrointestinal atresia: a case report.

2022-05-12

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>Tetratricopeptide repeat domain 7A (<italic>TTC7A</italic>, chromosome 2p21) is a highly-conserved structural motif essential for multiprotein scaffolding and cell survival. Fewer than 60 cases of <italic>TTC7A</italic> deficiency have been reported globally.<italic> It</italic> produces multisystemic disease phenotypes which are lethal in two-thirds of patients,...

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Literature Corpus work: 5ba5ebef-1e74-50bc-8a5e-ae4274e6778d
DOI: 10.21203/rs.3.rs-1567823/v1

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