Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion.
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ABSTRACT:
SUBMITTER: Swan L
PROVIDER: S-EPMC5952563 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Publications
Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion.
Case reports in genetics 20180430
Microdeletions at 19p13.3 are rarely reported in the medical literature with significant phenotypic variability. Among the reported cases, common clinical manifestations have included developmental delay, facial dysmorphism, and hypotonia. Herein we described a child with a de novo 19p13.3 microdeletion, proximal to the reported cases of 19p13.3 microdeletion/duplication, with ocular manifestations of bilateral ocular colobomata complicated with microphthalmos and cataract, associated with short ...[more]
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