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Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract. (2018)

First Author: Shalaby AK

Attributed to: The role of OCRL1 in endocytic membrane traffic funded by MRC

Abstract

No abstract provided

Bibliographic Information

PubMed Identifier: 30713423

Publication URI: http://europepmc.org/abstract/MED/30713423

Type: Journal Article/Review

Volume: 24

Parent Publication: Molecular vision

ISSN: 1090-0535