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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Format: | Book |
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BMC,
2019-09-01T00:00:00Z.
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A1234.567 |
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Copy 1 | Available |