File:Johanson-Blizzard syndrome.png
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Johanson-Blizzard_syndrome.png (506 × 562 pixels, file size: 662 KB, MIME type: image/png)
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[edit]DescriptionJohanson-Blizzard syndrome.png |
English: JBS patients.(A) Patient #1, whose facial appearance is nearly normal. Note the frontal upsweep of the hair and subtle hypoplasia of the nasal wings (minor signs of JBS). (B) Patient #2, a typical facial appearance of JBS, including the aplasia of nasal wings, midface hypoplasia, and a characteristic frontal hair pattern. (C) Patient #3, with a mild hypoplasia of nasal wings. (D) A previously described case of severe JBS, with typical facial features, in which both alleles of UBR1 were, most likely, allele |
Date | |
Source | Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome |
Author | Cheol-Sang Hwang, Maja Sukalo, Olga Batygin, Marie-Claude Addor, Han Brunner, Antonio Perez Aytes, Julia Mayerle, Hyun Kyu Song, Alexander Varshavsky, Martin Zenker |
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current | 11:52, 30 August 2018 | ![]() | 506 × 562 (662 KB) | Fallaner (talk | contribs) | User created page with UploadWizard |
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