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Article

Molecular and phenotypic variability in the congenital alveolar proteinosis syndrome associated with inherited surfactant protein B deficiency.

The Journal of pediatrics - 1 Jul 1994

deMello D E, Nogee L M, Heyman S, Krous H F, Hussain M, Merritt T A, Hsueh W, Haas J E, Heidelberger K, Schumacher R

Abstract excerpt

Congenital alveolar proteinosis (CAP) is an often fatal cause of respiratory failure in term newborn infants, which has been associated with a genetic deficiency of surfactant protein B (SP-B) as a result of a frameshift mutation (121ins2) in a family with three affected siblings. In the index cases the deficiency of SP-B was associated with qualitative and quantitative abnormalities of the surfactant proteins A...

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PMID: 8021783
DOI: 10.1016/s0022-3476(94)70119-9

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

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Molecular and phenotypic variability in the congenital alveolar proteinosis syndrome associated with inherited surfactant protein B deficiency.PMID 8021783Read ↗

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