The natural history of severe anemia in cartilage-hair hypoplasia
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
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1. Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients;Scientific Reports;2024-06-11
2. Cartilage-hair hypoplasia–anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report;Medicine;2024-05-24
3. Shorter birth length and decreased T-cell production and function predict severe infections in children with non–severe combined immunodeficiency cartilage–hair hypoplasia;Journal of Allergy and Clinical Immunology: Global;2024-02
4. An extra-erythrocyte role of haemoglobin body in chondrocyte hypoxia adaption;Nature;2023-10-04
5. Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report;Frontiers in Immunology;2022-05-19
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