After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.

Joseline Serrano-GonzálezIngrid Montes-RodríguezJessicca Y RentaRicardo RojasCarmen L Cadilla

Published in: Molecular genetics & genomic medicine (2024)

Our study shows the importance of molecular testing when diagnosing a rare genetic disorder, especially in populations were the disease prevalence is higher.

Keyphrases

copy number
risk factors
single molecule
case report
genetic diversity