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Case Report: Desmoglein-3 Gene Mutation Leading to Airway Compromise in Fraternal Twin Infants.

A&A practice - 12 Apr 2022

Bajwa Jasmine, Deserres Lianne, Lando Tali, Salik Irim

Abstract excerpt

The desmoglein 3 18q11 gene mutation has not been well described in humans, except for a few case reports. The desmoglein 3 gene controls a transmembrane component of the desmosome complex that mediates epidermal cell adhesion and integrity of the oropharyngeal mucosa. We present two fraternal twin infants who exhibited features of airway compromise and respiratory distress shortly after birth. These infants...

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PMID: 35421001
DOI: 10.1213/XAA.0000000000001584

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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