Identifying a novel <i>SRCAP</i> variant in floating-harbor syndrome and prenatal genetic diagnosis in this Chinese family: A case report

This case confirms that the c.7235delinsGT (p.Thr2412fs) variant in the <i>SRCAP</i> gene is associated with FHS and expands the spectrum of <i>SRCAP</i> variants.

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Publication Details

Journal
World Journal of Clinical Cases
Published
2025-04-08
DOI
https://doi.org/10.12998/wjcc.v13.i20.102651
Citations
1
Primary Topic
Genomic variations and chromosomal abnormalities
Type
article
Field-Weighted Citation Impact
1.82
Controls
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article

Identifying a novel SRCAP variant in floating-harbor syndrome and prenatal genetic diagnosis in this Chinese family: A case report

Shanling Liu, Ping Wang, He Wang, Xiao Xiao et al.
1 citations
World Journal of Clinical Cases
Genomic variations and chromosomal abnormalities
1.82
article

Identifying a novel SRCAP variant in floating-harbor syndrome and prenatal genetic diagnosis in this Chinese family: A case report

Shanling Liu, Ping Wang, He Wang, Xiao Xiao, Hanbing Xie
article en
1 citations

Abstract

This case confirms that the c.7235delinsGT (p.Thr2412fs) variant in the <i>SRCAP</i> gene is associated with FHS and expands the spectrum of <i>SRCAP</i> variants.

World Journal of Clinical CasesVol. 13(20)
Sichuan University (CN)
Good health and well-being
Openalex Percentile: Top 17%
Genomic variations and chromosomal abnormalities
1.82
DOIOpen Access PDFOpenAlex
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