P408: Familial presentation and variability in TRPV4 brachyolmia type 3

On obtaining the maternal family history, there was a long history of short stature and similar complaints of early childhood back pain. Multiple family members were tested and identified to have the c.1847G>A (p.Arg616Gln) variant in TRPV4.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.103275
Primary Topic
Pericarditis and Cardiac Tamponade
Type
article
Field-Weighted Citation Impact
0.00
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article

P408: Familial presentation and variability in TRPV4 brachyolmia type 3

Stacey Cole, Brianna Stebbins
Genetics in Medicine Open
Pericarditis and Cardiac Tamponade
article

P408: Familial presentation and variability in TRPV4 brachyolmia type 3

Stacey Cole, Brianna Stebbins
article en

Abstract

On obtaining the maternal family history, there was a long history of short stature and similar complaints of early childhood back pain. Multiple family members were tested and identified to have the c.1847G>A (p.Arg616Gln) variant in TRPV4.

Genetics in Medicine OpenVol. 3
University of Utah (US)
Zero hunger
Openalex Percentile: Top 92%
Pericarditis and Cardiac Tamponade
DOIOpen Access PDFOpenAlex
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P408: Familial presentation and variability in TRPV4 brachyolmia type 3 — Stacey Cole, Brianna Stebbins · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS