Deciphering the pathogenic role of rare RAF1 heterozygous missense mutation in the late-presenting DDH

BackgroundDevelopmental Dysplasia of the Hip (DDH) is a skeletal disorder where late-presenting forms often escape early diagnosis, leading to limb and pain in adults. The genetic basis of DDH is not fully understood despite known genetic predispositions.MethodsWe employed Whole Genome Sequencing (W...

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Hlavní autoři:	Yuzhao Liu, Xuesong Fan, Kun Qian, Changshun Wu, Laibo Zhang, Lin Yuan, Zhentao Man, Shuai Wu, Ping Li, Xianquan Wang, Wei Li, Yuanqing Zhang, Shui Sun, Chenxi Yu
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2024-06-01
Edice:	Frontiers in Genetics
Témata:	DDH RAF1 mutation RAS-ERK pathway validation of pathogenicity WGS
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1375736/full
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