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  1. Article

    Open Access

    Ocular characteristics in a variant microcephalic primordial dwarfism type II

    Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is a rare disease that is assumed to be caused by a pericentrin (PCNT) gene mutation. Clinical manifestations have been reported in pediatri...

    Wan-Ju Chen, Fu-Chin Huang, Min-Hsiu Shih in BMC Pediatrics (2019)