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  1. Article

    Open Access

    Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome

    Rare genetic disorders causing specific congenital developmental abnormalities often manifest in single families. Investigation of disease-causing molecular features are most times lacking, although these inve...

    Asuman Koparir, Caroline Lekszas, Kemal Keseroglu, Thalia Rose in Human Genomics (2024)