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Article

SFTPC gene mutation p.R167Q in a premature infant.

Pediatric pulmonology - 1 Mar 2014

Jon Cindy, Nolan Paul K, Ekong Mfon, Mosquera Ricardo A, Stark James M

Abstract excerpt

We present an infant who was born premature at 23 weeks gestation with bronchopulmonary dysplasia and a SFTPC gene mutation, p.R167Q, who had a complicated neonatal course requiring 4 months of mechanical ventilation. Over time, his clinical course has improved, and he only requires oxygen by nasal cannula and low dose hydroxychloroquine, suggesting that p.R167Q mutation contributed to his clinical course and may...

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Source

Identifiers

PMID: 23775869
DOI: 10.1002/ppul.22825

Genes

SFTPC

Variants

Provenance

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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