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Blue Diaper Syndrome and PCSK1 Mutations

Felix Distelmaier1, Diran Herebian2, Claudia Atasever3

  • 1Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Heinrich Heine University, Düsseldorf, Germany; felix.distelmaier@med.uni-duesseldorf.de.

Pediatrics
|April 4, 2018
PubMed
Summary

Blue diaper syndrome (BDS), a rare disorder causing blue urine spots, is now linked to mutations in the PCSK1 gene. This discovery offers new insights into the genetic causes of this condition.

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