Frontometaphyseal dysplasia associated with the FLNA p.G1576R variant

Frontometaphyseal dysplasia associated with the FLNA p.G1576R variant

This report presents a male patient with frontometaphyseal dysplasia (FMD) caused by a previously reported FLNA variant (NM_001456.4:c.4726G>A (p.Gly1576Arg)) that was maternally inherited. This finding directly contrasts with two previously reported observations of the same variant, which led to...

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Main Authors: Morten Reiffenstein Huno, Trine Østergaard Nielsen, Michel Bach Hellfritzsch, Sara Markholt, Michael Davidsen, Stine Maria Lund Andersen, Sia Mariann Kjeldsen, Thomas Krusenstjerna-Hafstrøm, Stephen P. Robertson, Pernille Axél Gregersen
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Rare
Subjects:
FLNA
Frontometaphyseal dysplasia
Skeletal dysplasia
Rare disease
Online Access:http://www.sciencedirect.com/science/article/pii/S2950008725000316
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http://www.sciencedirect.com/science/article/pii/S2950008725000316

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