Broad spectrum of anomalies including quadricuspid aortic valve associated with a novel frameshift SALL4 variant

Piranit Nik Kantaputra, Kittikhoon Buaban, Napaphat Thongsee,Massupa Kaewgahya,Natalina Quarto,Bruce M. Carlson,Chumpol Ngamphiw,Sissades Tongsima

Clinical Genetics（2023）

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摘要

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.

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关键词

aortic valve,quadricuspid,anomalies

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