Osteopetrosis (OPTA 1–3; OPTB 1–8)
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1779-1
Reference8 articles.
1. Albers-Schonberg H (1904) Rntgenbilder einer seltenen Knochenkrankung. Munchen Med Wochenschr 51:365
2. Arumugam E, Harinathbabu M, Thillaigovindan R, Prabhu G (2015) Marble bone disease: a rare bone disorder. Cureus:7
3. Del Fattore A et al (2008) A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts. J Bone Miner Res 23:380–391
4. Kornak U et al (2001) Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell 104:205–215
5. Oǧur G, Oǧur E, Celasun B, Basȩr Ï, Ïmïrzalioǧlu N, Öztürk T, Alemdaroǧlu A (1995) Prenatal diagnosis of autosomal recessive osteopetrosis, infantile type, by X-ray evaluation. Prenat Diagn 15:477–481
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