Johanson-Blizzard syndrome in New York

1 specialist · 2 treatment centers for Johanson-Blizzard syndrome in New York, verified against ClinicalTrials.gov, PubMed, and the NPPES NPI registry.

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive multisystem disorder caused by mutations in the UBR1 gene, which encodes a ubiquitin ligase involved in protein degradation. The condition is typically recognized at birth due to its characteristic features, which include aplasia or hypoplasia of the nasal …