Ontology highlight
ABSTRACT:
SUBMITTER: Suh YW
PROVIDER: S-EPMC6504588 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Suh Young-Woo YW Horton Jonathan C JC
Ophthalmic genetics 20190403 2
<h4>Background</h4>Signal Transducer and Activator of Transcription 3 (STAT3) gain-of-function germline mutations are associated with diverse clinical manifestations, including autoimmune cytopenia, lymphadenopathy, immunodeficiency, endocrinopathy, and enteropathy. We describe a new feature: raised intracranial pressure with papilledema.<h4>Materials and methods</h4>Report of two cases.<h4>Results</h4>The first patient had a de novo heterozygous c.2144C>T (p.Pro715Leu) mutation in the STAT3 gen ...[more]