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johansonblizzard-syndrome-a-report-of-genderdiscordant-twins-with-a-novel-ubr1-mutation.pdf
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🔗 Source: geneticsmr.org
📊 Size: 496 KB
📄 Pages: 6 pages
⬇️ Downloads: 67

Summary

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder caused by loss-of-function mutations in the UBR1 gene, characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the alae nasi, congenital scalp defects, sensorineural hearing loss, growth retardation, psychomotor retardation, and anal and genitourinary anomalies. A novel mutation (c.3682C>T; p.Q1228X) in the UBR1 gene was identified in gender-discordant twins with JBS. The female twin died at 3 months, while the male twin survived into adolescence after receiving nutritional support and pancreatic enzyme replacement. Early diagnosis and treatment are crucial for a favorable outcome.

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Description

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder caused by loss-of-function mutations in the UBR1 gene, characterized by exocrine...

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  • File Format: PDF
  • File Size: 496 KB
  • Pages: 6
  • Language: EN
  • Total Downloads: 67
  • Last Updated: 1 week ago

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