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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis

Figure 1

Family pedigrees and corresponding mutations of all patients of the novel cohort. Panels A. through I. correspond to patients A. through I. as referred to in Figure 2 and Table 2. Pedigrees of novel PAP cases. Pedigrees of all novel PAP cases are given. Consanguinity could be determined in all but one case. Of note, an uncharacterized ILD was described in a cousin of patient F. Furthermore, a homozygous but asymptomatic mutation carrier could be identified in the family of patient I.

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