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Article

Expansion of the ophthalmic phenotype of SPINT2-related syndromic congenital sodium diarrhea.

American journal of medical genetics. Part A - 1 Apr 2021

Ernst Julia, Hiasat Jamila, Alabek Michelle L, Scanga Hannah L, Motley William, Nischal Ken K

Abstract excerpt

A 5-year-old girl presented with treatment-refractory dry eye and recurrent episodes of eye pain. She had been previously diagnosed with syndromic congenital sodium diarrhea (SCSD) caused by a pathogenic variant in SPINT2. Her local pediatric ophthalmologist had made the diagnosis of severe dry eye with corneal erosions, based on which, we arranged an eye exam under anesthesia (EUA) and punctal plug placement....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33547739
DOI: 10.1002/ajmg.a.62094

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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