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Article
Open AccessSegregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism
Atypical parkinsonian disorders (APDs) comprise a group of neurodegenerative diseases with heterogeneous clinical and pathological features. Most APDs are sporadic, but rare familial forms have also been repor...
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Article
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
Hair follicle miniaturization is a degenerative process that reduces the dimensions of the epithelial and mesenchymal cell compartments, converting thick hair to fine, downy hair. It is most commonly observed ...