[Prenatal ultrasound and genetic characteristics of fetuses with Kabuki syndrome: A report of six cases and literature review].

This study has expanded the mutational spectrum of the KMT2D gene. Prenatal ultrasound findings of KS lack specificity, though multi-system anomalies or specific soft markers may indicate KS. WES is an effective tool for the diagnosis, and KS should be included in the differential diagnosis list for prenatal cardiac and renal abnormalities.

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Publication Details

Journal
PubMed
Published
2025-08-10
DOI
https://doi.org/10.3760/cma.j.cn511374-20250617-00374
Primary Topic
Genomics and Rare Diseases
Type
article
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article

[Prenatal ultrasound and genetic characteristics of fetuses with Kabuki syndrome: A report of six cases and literature review].

Jieping Song, Yayun Qin
PubMed
Genomics and Rare Diseases
article

[Prenatal ultrasound and genetic characteristics of fetuses with Kabuki syndrome: A report of six cases and literature review].

Jieping Song, Yayun Qin
article en

Abstract

This study has expanded the mutational spectrum of the KMT2D gene. Prenatal ultrasound findings of KS lack specificity, though multi-system anomalies or specific soft markers may indicate KS. WES is an effective tool for the diagnosis, and KS should be included in the differential diagnosis list for prenatal cardiac and renal abnormalities.

PubMedVol. 42(8)
Hubei Provincial Women and Children's Hospital (CN)
Openalex Percentile: Top 69%
Genomics and Rare Diseases
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[Prenatal ultrasound and genetic characteristics of fetuses with Kabuki syndrome: A report of six cases and literature review]. — Jieping Song, Yayun Qin · PubMed (2025) | TGRS Research Map | TGRS