Osteopetrosis in a six-month-old infant
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology,Histology,Pathology and Forensic Medicine
Link
https://link.springer.com/content/pdf/10.1007/s12308-020-00399-4.pdf
Reference20 articles.
1. Palagano E, Menale C, Sobacchi C, Villa A (2018) Genetics of osteopetrosis. Curr Osteoporos Rep 16(1):13–25. https://doi.org/10.1007/s11914-018-0415-2
2. Penna S, Capo V, Palagano E, Sobacchi C, Villa A (2019) One disease, many genes: implications for the treatment of osteopetroses. Front Endocrinol (Lausanne) 10:85. https://doi.org/10.3389/fendo.2019.00085
3. Sobacchi C, Schulz A, Coxon FP, Villa A, Helfrich MH (2013) Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol 9(9):522–536. https://doi.org/10.1038/nrendo.2013.137
4. Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M, Babul-Hirji R, Baric I, Canham N, Chitayat D, Dupuis-Girod S, Ellis I, Etzioni A, Fasth A, Fisher A, Gerritsen B, Gulino V, Horwitz E, Klamroth V, Lanino E, Mirolo M, Musio A, Matthijs G, Nonomaya S, Notarangelo LD, Ochs HD, Superti Furga A, Valiaho J, van Hove JL, Vihinen M, Vujic D, Vezzoni P, Villa A (2001) The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet 10(17):1767–1773. https://doi.org/10.1093/hmg/10.17.1767
5. Barnea Slonim L, Glasser C (2018) Infantile osteopetrosis. J Pediatr Hematol Oncol 40(3):225–226. https://doi.org/10.1097/MPH.0000000000001108
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