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Broad spectrum of anomalies including quadricuspid aortic valve associated with a novel frameshift SALL4 variant.
Kantaputra, Piranit; Buaban, Kittikhoon; Thongsee, Napaphat; Kaewgahya, Massupa; Quarto, Natalina; Carlson, Bruce M; Ngamphiw, Chumpol; Tongsima, Sissades.
Clin Genet ; 104(1): 133-135, 2023 07.
Article in English | MEDLINE | ID: mdl-36756699

ABSTRACT

Each family member had a SALL4 variant. This is the first report of quadricuspid aortic valve and a genetic variant. The variation in phenotype caused by SALL4 mutations questions the division of SALL4-related phenotypes in three different entities.


Subject(s)
Aortic Valve , Quadricuspid Aortic Valve , Humans , Aortic Valve/diagnostic imaging , Aortic Valve/abnormalities , Frameshift Mutation/genetics , Phenotype , Transcription Factors/genetics
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