Article

Bridging Genomic Insight and Clinical Care in Chromosome 8p Disorders Through a Registry-Driven Passport

2025-12-06

Abstract excerpt

<h4>Background</h4> Rare diseases are frequently associated with prolonged diagnostic odysseys and fragmented care, requiring coordination across multiple specialties and often leaving families to bridge gaps in medical knowledge among providers. Chromosome 8p disorders, caused by diverse structural rearrangements, exemplify these challenges, as clinical manifestations and management needs vary widely across gene...

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Literature Corpus work: ee073460-8644-5feb-a165-13032082be4c
DOI: 10.64898/2025.12.02.25340619

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