Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family-Reference-Cited by-同舟云学术

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family

Published:2011-01-12 Issue:5 Volume:129 Page:513-519
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Draaken Markus,Giesen Carmen A.,Kesselheim Anne L.,Jabs Ronald,Aretz Stefan,Kugaudo Monika,Chrzanowska Krystyna H.,Krajewska-Walasek Malgorzata,Ludwig Michael

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-010-0944-y.pdf

Reference38 articles.

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2. Böckenhauer D, Bökenkamp A, van’t Hoff W, Levtchenko E, Kist-van Holthe JE, Tasic V, Ludwig M (2008) Renal phenotype in Lowe syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol 3:1430–1436

3. Bökenkamp A, Böckenhauer D, Cheong HI, Hoppe B, Tasic V, Unwin R, Ludwig M (2009) Dent-2 disease: a mild variant of Lowe syndrome. J Pediatr 155:94–99

4. Brown N, Gardner RJ (1976) Lowe syndrome: identification of the carrier state. Birth Defects Orig Artic Ser 12:579–595

5. Campbell L, Daniels RJ, Dubowitz V, Davies KE (1998) Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family. Am J Hum Genet 63:37–44

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