A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3

Human multiple synostoses syndrome 3 is an autosomal dominant disorder caused by pathogenic variants in FGF9. Only two variants have been described in FGF9 in humans so far, and one in mice. Here we report a novel missense variant c.566C > G, p.(Pro189Arg) in FGF9. Functional studies showed this...

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Detalles Bibliográficos
Autores principales: Thuresson, Ann‐Charlotte, Croft, Brittany, Hailer, Yasmin D., Liminga, Gunnar, Arvidsson, Carl‐Göran, Harley, Vincent R., Stattin, Eva‐Lena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2021
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839447/
https://www.ncbi.nlm.nih.gov/pubmed/33174625
http://dx.doi.org/10.1111/cge.13880

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