Article

Expanding the phenotypic spectrum of NOTCH1 variants: Clinical manifestations in families with congenital heart disease

2024-01-17

Abstract excerpt

<title>Abstract</title> <p>Pathogenic variants in <italic>NOTCH1</italic> are associated with non-syndromic congenital heart disease (CHD) and Adams-Oliver syndrome (AOS). The clinical presentation of individuals with damaging <italic>NOTCH1</italic> variants is characterized by variable expressivity and incomplete penetrance; however, data on systematic phenotypic characterization are limited. We report the geno...

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Literature Corpus work: 37f614ea-eefc-5850-836b-f363b6d1a5f4
DOI: 10.21203/rs.3.rs-3840638/v1

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