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Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.
Am J Med Genet A. 2021 Jul;185(7):2136-2149. doi: 10.1002/ajmg.a.62194. Epub 2021 Mar 30.
Am J Med Genet A. 2021.
PMID: 33783941
Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares.
Chau AS, Cole BL, Debley JS, Nanda K, Rosen ABI, Bamshad MJ, Nickerson DA, Torgerson TR, Allenspach EJ.
Chau AS, et al.
Pediatr Rheumatol Online J. 2020 Oct 16;18(1):80. doi: 10.1186/s12969-020-00474-1.
Pediatr Rheumatol Online J. 2020.
PMID: 33066778
Free PMC article.
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