Ocular characteristics in a variant microcephalic primordial dwarfism type II

Abstract Background 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 pediatrics and neurology; however, only a few ocular findings have been documen...

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Hoofdauteurs: Wan-Ju Chen (Auteur), Fu-Chin Huang (Auteur), Min-Hsiu Shih (Auteur)
Formaat: Boek
Gepubliceerd in: BMC, 2019-09-01T00:00:00Z.
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