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Article

Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly.

The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease - 1 Apr 2012

Paulson M L, Olivier K N, Holland S M

Abstract excerpt

Congenital contractural arachnodactyly (CCA) is caused by mutations within the fibrillin-2 gene (FBN2), which is crucial for microfibril structure. Affected individuals may have contractures, chest wall deformities, scoliosis, abnormal ear folding and elongated limbs. We describe a novel FBN2 mut...

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Source

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Identifiers

PMID: 22325249
DOI: 10.5588/ijtld.11.0301
PMCID: PMC3732819

Genes

FBN2
NTM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22325249-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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