Re: further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria

Editorial

Dean G Assimos. J Urol. 2014 Mar.

. 2014 Mar;191(3):679-80.

doi: 10.1016/j.juro.2013.11.035. Epub 2013 Nov 23.

No abstract available

Comment on

Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.
Bartholdi D, Asadollahi R, Oneda B, Schmitt-Mechelke T, Tonella P, Baumer A, Rauch A. Bartholdi D, et al. Am J Med Genet A. 2013 Aug;161A(8):1853-9. doi: 10.1002/ajmg.a.35994. Epub 2013 Jun 21. Am J Med Genet A. 2013. PMID: 23794250

Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.
Bartholdi D, Asadollahi R, Oneda B, Schmitt-Mechelke T, Tonella P, Baumer A, Rauch A. Bartholdi D, et al. Am J Med Genet A. 2013 Aug;161A(8):1853-9. doi: 10.1002/ajmg.a.35994. Epub 2013 Jun 21. Am J Med Genet A. 2013. PMID: 23794250
Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.
Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, Creemers JW. Chabrol B, et al. J Med Genet. 2008 May;45(5):314-8. doi: 10.1136/jmg.2007.055475. Epub 2008 Jan 30. J Med Genet. 2008. PMID: 18234729
Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.
Martens K, Heulens I, Meulemans S, Zaffanello M, Tilstra D, Hes FJ, Rooman R, François I, de Zegher F, Jaeken J, Matthijs G, Creemers JW. Martens K, et al. Eur J Hum Genet. 2007 Oct;15(10):1029-33. doi: 10.1038/sj.ejhg.5201881. Epub 2007 Jun 20. Eur J Hum Genet. 2007. PMID: 17579669
Multi-system disorder syndromes associated with cystinuria type I.
Martens K, Jaeken J, Matthijs G, Creemers JW. Martens K, et al. Curr Mol Med. 2008 Sep;8(6):544-50. doi: 10.2174/156652408785747997. Curr Mol Med. 2008. PMID: 18781961 Review.
The molecular basis of cystinuria.
Goodyer P. Goodyer P. Nephron Exp Nephrol. 2004;98(2):e45-9. doi: 10.1159/000080255. Nephron Exp Nephrol. 2004. PMID: 15499206 Review.