Deciphering the pathogenic role of rare RAF1 heterozygous missense mutation in the late-presenting DDH
Yuzhao Liu,
Xuesong Fan,
Kun Qian
et al.
Abstract: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 (WGS) to explore the genetic factors in late-presenting DDH in two unrelated families, supported by phenotypic analyses and in vitro validation.ResultsIn both cases, a novel de novo heterozygous missense mutation in R… Show more
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