Literature DB >> 8325732

The oculocerebrorenal syndrome of Lowe.

C W Lavin, C A McKeown.   

Abstract

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Year:  1993        PMID： 8325732     DOI： 10.1097/00004397-199303320-00017

Source DB:  PubMed          Journal:  Int Ophthalmol Clin        ISSN： 0020-8167


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  4 in total

1.  Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.

Authors:  P A Jänne; S F Suchy; D Bernard; M MacDonald; J Crawley; A Grinberg; A Wynshaw-Boris; H Westphal; R L Nussbaum
Journal:  J Clin Invest       Date:  1998-05-15       Impact factor: 14.808

Review 2.  Pediatric cataract: challenges and future directions.

Authors:  Anagha Medsinge; Ken K Nischal
Journal:  Clin Ophthalmol       Date:  2015-01-07

3.  Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.

Authors:  Emilie Song; Na Luo; Jorge A Alvarado; Maria Lim; Cathleen Walnuss; Daniel Neely; Dan Spandau; Alireza Ghaffarieh; Yang Sun
Journal:  Sci Rep       Date:  2017-05-04       Impact factor: 4.379

4.  Gonadotrophin abnormalities in an infant with Lowe syndrome.

Authors:  Bronwen E Warner; Carol D Inward; Christine P Burren
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2017-04-19
  4 in total

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