Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion
Author:
Funder
Ministero della Salute
Publisher
Springer Science and Business Media LLC
Subject
Nephrology
Link
https://link.springer.com/content/pdf/10.1007/s40620-020-00959-y.pdf
Reference9 articles.
1. Gianesello L, Del Prete D, Anglani F, Calo LA (2020) Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon. Hum Genet. https://doi.org/10.1007/s00439-020-02219-2
2. Claverie-Martin F, Ramos-Trujillo E, Garcia-Nieto V (2011) Dent’s disease: clinical features and molecular basis. PediatrNephrol 26(5):693–704. https://doi.org/10.1007/s00467-010-1657-0
3. Anglani F, Gianesello L, Beara-Lasic L, Lieske J (2019) Dent disease: a window into calcium and phosphate transport. J Cell Mol Med 23(11):7132–7142. https://doi.org/10.1111/jcmm.14590
4. Thiselton DL, McDowall J, Brandau O, Ramser J, d’Esposito F, Bhattacharya SS, Ross MT, Hardcastle AJ, Meindl A (2002) An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders. Genomics 79(4):560–572. https://doi.org/10.1006/geno.2002.6733
5. Qiao Y, Liu X, Harvard C, Hildebrand MJ, Rajcan-Separovic E, Holden JJ, Lewis ME (2008) Autism-associated familial microdeletion of Xp11.22. Clin Genet 74(2):134–144. https://doi.org/10.1111/j.1399-0004.2008.01028.x
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