ScienceOpen:
research and publishing network
For Publishers
Discovery
Metadata
Peer review
Hosting
Publishing
For Researchers
Join
Publish
Review
Collect
My ScienceOpen
Sign in
Register
Dashboard
Blog
About
Search
Advanced search
My ScienceOpen
Sign in
Register
Dashboard
Search
Search
Advanced search
For Publishers
Discovery
Metadata
Peer review
Hosting
Publishing
For Researchers
Join
Publish
Review
Collect
Blog
About
25
views
0
references
Top references
cited by
24
Cite as...
0 reviews
Review
0
comments
Comment
0
recommends
+1
Recommend
0
collections
Add to
0
shares
Share
Twitter
Sina Weibo
Facebook
Email
1,409
similar
All similar
Record
: found
Abstract
: found
Article
: found
Is Open Access
Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma
Author(s):
Kamron Khan
,
Adam Rudkin
,
David A. Parry
,
Kathryn P. Burdon
,
Martin Mckibbin
,
Clare V. Logan
,
Zakia I.A. Abdelhamed
,
James S. Muecke
,
Narcis Fernandez-Fuentes
,
Kate J. Laurie
,
Mike Shires
,
Rhys Fogarty
,
Ian M. Carr
,
James A. Poulter
,
Joanne E. Morgan
,
Moin D. Mohamed
,
Hussain Jafri
,
Yasmin Raashid
,
Ngy Meng
,
Horm Piseth
,
Carmel Toomes
,
Robert J. Casson
,
Graham R. Taylor
,
Michael Hammerton
,
Eamonn Sheridan
,
Colin A. Johnson
,
Chris F. Inglehearn
,
Jamie E. Craig
,
Manir Ali
Publication date:
2011-09-01
Journal:
The American Journal of Human Genetics
Publisher:
Elsevier BV
Read this article at
ScienceOpen
Publisher
PMC
Download
XML
Review
Review article
Invite someone to review
Bookmark
Cite as...
There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.
Related collections
Journal for ReAttach Therapy and Developmental Diversities
Author and article information
Journal
DOI::
10.1016/j.ajhg.2011.08.005
PMC ID::
3169830
PubMed ID::
21907015
License:
http://creativecommons.org/licenses/by/4.0/
Data availability:
Comments
Comment on this article
Sign in to comment
scite_
Similar content
1,409
GAMA/H-ATLAS: THE DUST OPACITY-STELLAR MASS SURFACE DENSITY RELATION FOR SPIRAL GALAXIES
Authors:
M. Grootes
,
R. Tuffs
,
C. C. Popescu
…
Atomic data for opacity calculations. XVIII. Photoionization and oscillator strengths of Si-like ions Si0, S2+, Ar4+, Ca6+
Authors:
A. K. Pradhan
,
S. Nahar
Advances in intelligent diagnosis methods for pulmonary ground-glass opacity nodules
Authors:
Jing Yang
,
Hailin Wang
,
Chen Geng
…
See all similar
Cited by
24
The sulfilimine cross-link of collagen IV contributes to kidney tubular basement membrane stiffness
Authors:
Gautam Bhave
,
Selene Colon
,
Nicholas Ferrell
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus
Authors:
Patricia Blanchet
,
Martina Bebin
,
Shaam Bruet
…
Genome-Wide Transcriptional Analysis of Differentially Expressed Genes in Diabetic, Healing Corneal Epithelial Cells: Hyperglycemia-Suppressed TGFβ3 Expression Contributes to the Delay of Epithelial Wound Healing in Diabetic Corneas
Authors:
Ilham Bettahi
,
Haijing Sun
,
Nan Gao
…
See all cited by
Version 1
- Current
Version 1