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Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
J Bone Miner Res. 2021 Nov;36(11):2193-2202. doi: 10.1002/jbmr.4418. Epub 2021 Aug 16.
J Bone Miner Res. 2021.
PMID: 34355424
Free PMC article.
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F.
Nitschke Y, et al. Among authors: botschen u.
Am J Hum Genet. 2012 Jan 13;90(1):25-39. doi: 10.1016/j.ajhg.2011.11.020. Epub 2011 Dec 29.
Am J Hum Genet. 2012.
PMID: 22209248
Free PMC article.
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ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.
Mercurio SA, Chunn LM, Khursigara G, Nester C, Wray K, Botschen U, Kiel MJ, Rutsch F, Ferreira CR.
Mercurio SA, et al. Among authors: botschen u.
Hum Mutat. 2022 Dec;43(12):1673-1705. doi: 10.1002/humu.24477. Epub 2022 Oct 8.
Hum Mutat. 2022.
PMID: 36150100
Review.
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An Unusual Case of Transient Cardiac Calcification Identified on Antenatal Echocardiography: A Generalized Arterial Calcification of Infancy (GACI) Like Presentation.
Suntharesan J, Agarwal U, Lim J, Collingwood C, Avula S, Mughal MZ, Nitschke Y, Botschen U, Rutsch F, Ramakrishnan R.
Suntharesan J, et al. Among authors: botschen u.
Calcif Tissue Int. 2022 Dec;111(6):646-652. doi: 10.1007/s00223-022-01026-3. Epub 2022 Oct 11.
Calcif Tissue Int. 2022.
PMID: 36220940
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