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Items: 4

1.
Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant
Lijun Liu, Chanchan Hu, Zhenjie Chen, Shuzhen Zhu, Lvchang Zhu
Am J Case Rep. 2023; 24: e942377-1–e942377-10. Published online 2023 Nov 29. doi: 10.12659/AJCR.942377
PMCID:
PMC10697549
ArticlePDF–1.3M
2.
DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models
Koray Ütkür, Klaus Mayer, Maliha Khan, Thirishika Manivannan, Raffael Schaffrath, Ulrich Brinkmann
Dis Model Mech. 2023 Sep 1; 16(9): dmm050207. Published online 2023 Sep 22. doi: 10.1242/dmm.050207
PMCID:
PMC10538292
Article
3.
Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy
Harmen Hawer, Bryce A. Mendelsohn, Klaus Mayer, Ann Kung, Amit Malhotra, Sari Tuupanen, Jennifer Schleit, Ulrich Brinkmann, Raffael Schaffrath
Eur J Hum Genet. 2020 Nov; 28(11): 1497–1508. Published online 2020 Jun 23. doi: 10.1038/s41431-020-0668-y
PMCID:
PMC7575589
ArticlePDF–1.8M
4.
Expanding the SHOC2 Mutation Associated Phenotype of Noonan Syndrome with Loose Anagen Hair: Structural Brain Anomalies and Myelofibrosis
Karen W. Gripp, Dina J. Zand, Laurie Demmer, Carol E. Anderson, William B. Dobyns, Elaine H. Zackai, Elizabeth Denenberg, Kim Jenny, Deborah L. Stabley, Katia Sol-Church
Am J Med Genet A. Author manuscript; available in PMC 2014 Oct 1.
Published in final edited form as: Am J Med Genet A. 2013 Oct; 161(10): 2420–2430. Published online 2013 Aug 5. doi: 10.1002/ajmg.a.36098
PMCID:
PMC3787995
ArticlePDF–2.9M

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