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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2019-09-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12887-019-1685-2 |