Clinical utility gene card for: Lowe syndrome

Eur J Hum Genet. 2015 Jun;23(6). doi: 10.1038/ejhg.2014.177. Epub 2014 Sep 3.

Authors

Arend Bökenkamp¹, Elena Levtchenko², Florian Recker³, Michael Ludwig³

Affiliations

¹ Department of Pediatric Nephrology, VU University Medical Center, Amsterdam, The Netherlands.
² Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium.
³ Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Female
Humans
Male
Oculocerebrorenal Syndrome / diagnosis
Oculocerebrorenal Syndrome / genetics*
Phosphoric Monoester Hydrolases / genetics*

Substances

Phosphoric Monoester Hydrolases
OCRL protein, human