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Related Experiment Videos

[Johanson-Blizzard syndrome].

S Rudnik-Schöneborn1, B Keller, F A Beemer

  • 1Institut für Humangenetik, Universität Bonn.

Klinische Padiatrie
|January 1, 1991
PubMed
Summary

Johanson-Blizzard syndrome (JBS) is a rare genetic disorder. Early diagnosis and treatment of pancreatic insufficiency and hypothyroidism can significantly improve outcomes, with potential for better prognosis in females.

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Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Johanson-Blizzard syndrome (JBS) is an autosomal recessive disorder.
  • Key features include pancreatic insufficiency, distinct facial anomalies (hypo- or aplasia of alae nasi), and dental issues.