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Bjornstad Syndrome

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Bjornstad Syndrome" returned 0 free, full-text review articles. First 0 results:
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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Bjornstad Syndrome" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Bjornstad Syndrome" returned 2 free, full-text research articles. First 2 results:
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.
Last Updated: Dec 10, 2019

Bjornstad syndrome is a rare condition characterized by pili torti and sensorineural hearing loss associated with pathological variations in BCS1L. Mutations in this gene are also associated with the more severe complex III deficiency and GRACILE syndrome. We report the first Italian ...

Morphological analyses in fragility of pili torti with Björnstad syndrome.
Last Updated: Dec 10, 2019

Pili torti is an extremely rare hair phenotype characterized by short length of hairs with hair shafts being easily broken. However, the mechanism of fragility in pili torti is unclear. In this study, we examined the underlying morphological features responsible for pili torti formation ...

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