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ID 115131
Title Alternative
Lowe syndrome caused by gloss deletion
Author
Watanabe, Miki Tokushima University
Kohmoto, Tomohiro Tokushima University
Content Type
Journal Article
Description
Lowe syndrome (LS) is an X-linked disorder affecting the eyes, nervous system and kidneys, typically caused by missense or nonsense/frameshift OCRL mutations. We report a 6-month-old male clinically suspected to have LS, but without the Fanconi-type renal dysfunction. Using a targeted-exome sequencing-first approach, LS was diagnosed by the identification of a deletion involving 1.7 Mb at Xq25-q26.1, encompassing the entire OCRL gene and neighboring loci.
Journal Title
Human Genome Variation
ISSN
2054345X
Publisher
Springer Nature
Volume
3
Start Page
16037
Published Date
2016-11-10
Rights
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
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language
eng
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departments
University Hospital
Medical Sciences
Technical Support Department