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Article

Child Interstitial Lung Disease in an Infant with Surfactant Protein C Dysfunction due to c.202G>T Variant (p.V68F).

Lung - 1 Feb 2022

Park Hyunbin, Bidiwala Aneela, Conrad Laura A, Aborawi Nasr, Ewart Michelle, Josephson Maureen, Nogee Lawrence M, Arens Raanan

Abstract excerpt

For newborns suspected having childhood interstitial lung disease (ChILD), the sequencing of genes encoding surfactant proteins is recommended. However, it is still difficult to interpret the clinical significance of those variants found. We report a full-term born female infant who presented with respiratory distress and failure to thrive at 2 months of age and both imaging and lung biopsy were consistent with...

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Identifiers

PMID: 35034192
DOI: 10.1007/s00408-021-00501-2

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