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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Clin Genet
Main Authors: Thuresson, Ann‐Charlotte, Croft, Brittany, Hailer, Yasmin D., Liminga, Gunnar, Arvidsson, Carl‐Göran, Harley, Vincent R., Stattin, Eva‐Lena
Format: Artigo
Sprog:Inglês
Udgivet: Blackwell Publishing Ltd 2021
Fag:
Short Reports
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7839447/
https://ncbi.nlm.nih.gov/pubmed/33174625
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13880
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker