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Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis.

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Title: Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis.
Authors: Bertamino, Marta1 (AUTHOR), Goldberg, David J.2 (AUTHOR), Mughal, M. Zulf3 (AUTHOR), Pabst, Lisa4 (AUTHOR), Liao, Yaping Joyce5,6 (AUTHOR), Sun, Lisa R.7 (AUTHOR), Beckwell, Jane8 (AUTHOR), Kozaric, Amina8 (AUTHOR), du Moulin, Ruth9 (AUTHOR), Swanner, Katie9 (AUTHOR), Ferreira, Carlos R.10 (AUTHOR), Ziegler, Shira G.11 (AUTHOR) sgziegler@jhmi.edu
Source: Orphanet Journal of Rare Diseases. 11/19/2025, Vol. 20 Issue 1, p1-12. 12p.
Database: Academic Search Ultimate
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ISSN:17501172
DOI:10.1186/s13023-025-04102-7