Article

A novel clinical phenotype was identified in a case of THOC6 mutant fetus

2023-12-04

Abstract excerpt

Beaulieu-Boycott-Innes Syndrome (BBIS) is a rare autosomal recessive neurodevelopmental disorder genetic disorder caused by mutations in the THOC6 gene. The clinical characteristics caused by mutations in this gene and the range of variants have not yet been extensively described due to the dearth of pertinent clinical studies. Using prenatal cardiac ultrasonography, we discovered a fetus with a congenital double...

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Literature Corpus work: dca65ea3-8084-5100-9182-892b4194967e
DOI: 10.21203/rs.3.rs-3634852/v1

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