Baratela
WebAbout Press Copyright Contact us Creators Advertise Developers Terms Privacy Policy & Safety How YouTube works Test new features Press Copyright Contact us Creators ... Baratela-Scott syndrome In 2012 Baratela-Scott syndrome was identified in humans. A GGC repeat expansion, and methylation of exon 1 of XYLT1 is a common pathogenic variant in Baratela-Scott syndrome. Patients with Bartarlla-Scott syndrome exhibit abnormal development of the skeleton, … See more Xylosyltransferase 1 is an enzyme that in humans is encoded by the XYLT1 gene. Xylosyltransferase (XT; EC 2.4.2.26) catalyzes the transfer of UDP-xylose to serine residues within XT recognition sequences of target … See more • Götting C, Sollberg S, Kuhn J, et al. (1999). "Serum xylosyltransferase: a new biochemical marker of the sclerotic process in systemic sclerosis". J. Invest. Dermatol. 112 (6): … See more
Baratela
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WebThe Southern blot had shown a triplet repeat expansion, which causes methylation and silencing of the gene, leading to Baratela-Scott syndrome. The PCR-free targeted … WebMay 6, 2024 · Baratela-Scott syndrome (BSS) is a recessive skeletal dysplasia associated with developmental delay, short stature, and facial dysmorphy that clinically overlaps with …
WebDec 26, 2024 · Some cases of Baratela-Scott syndrome, a rare disorder that causes facial and bone abnormalities and developmental delay in children, appear to be due to repeating DNA sequences that are not easily detected by standard genetic screening tests, researchers report. The finding suggests that such hard-to-detect repeating sequences …
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