Article

Fetal Kabuki syndrome caused by a novel gene variation in KMT2D with primary carnitine deficiency: a case report

2026-05-09

Abstract excerpt

<title>Abstract</title> <p> Background Kabuki syndrome (KS) is an autosomal dominant syndrome involving multiple organs and systems and can be caused by mutation in <italic>KMT2D</italic> and <italic>KDM6A</italic> genes. Case report: Here, we report the case of a pregnant woman who underwent prenatal family full exon sequencing due to fetal multi-system abnormalities on ultrasound. Analysis revealed that...

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Literature Corpus work: 765bd709-e028-58c2-9fe2-c2aa9990677c
DOI: 10.21203/rs.3.rs-9474231/v1

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