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As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.Articles
Coexistence of Lupus Anticoagulant–Hypoprothrombinemia Syndrome and Bloom Syndrome in a Child
No abstract is available for this article. References 1, , , et al., “Lupus Anticoagulant-hypoprothrombinemia Syndrome: Report of Two Cases and Review of the Literature,” Lupus 24, no. 7 (2015): 736–745. 2, , , , , and , “Antiphospholipid Syndrome and Lupus Anticoagulant-Hypoprothrombinemia,” QJM 116, no. 4 (2023): 308–309. 3, , , et al., “Lupus Anticoagulant-Hypoprothrombinemia Syndrome and Similar Diseases: Experiences at a Single Center in Japan,” International Journal of Hematology 110, no.
Novel nonsense CAST mutation in two siblings with PLACK syndrome
References 1, , , , , , et al. Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads. Am J Hum Genet. 2015; 96: 440– 7. 2, , . Calcium-bound structure of calpain and its mechanism of inhibition by calpastatin. Nature. 2008; 456: 409– 12. 3, , , , , , et al. PLACK syndrome resulting from a new homozygous insertion mutation in CAST. J Dermatol Sci. 2017; 88: 256– 8. 4, , , , , . PLACK syndrome shows remarkable phenotypic homogeneity.
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