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ID 115131
Title Alternative
Lowe syndrome caused by gloss deletion
Author
Watanabe, Miki Tokushima University
Kohmoto, Tomohiro Tokushima University
Goji, Aya 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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DOI (Published Version)
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language
eng
TextVersion
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departments
University Hospital
Medical Sciences
Technical Support Department