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Summary
| Description |
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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| Date/Time | Thumbnail | Dimensions | User | Comment | |
|---|---|---|---|---|---|
| current | 11:52, 30 August 2018 | | 506 × 562 (662 KB) | Fallaner | User created page with UploadWizard |
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