Mutational Spectrum Associated With Oculocutaneous Albinism and Hermansky-Pudlak Syndrome in Nine Pakistani Families

    August 2024 in “ BMC Ophthalmology ”
    Jahangir Khan, Saaim Asif, Shamsul Ghani … Muhammad Imran Shabbir
    Studysummary This study identified multiple genetic variants in Pakistani families with oculocutaneous albinism, including two novel variants, enhancing understanding of its genetic basis and aiding better management and counseling.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
    Read the full study on bmcophthalmol.biomedcentral.com →
    Discuss this study in the Community →