BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome
About this item
Full title
Author / Creator
Publisher
Berlin/Heidelberg: Springer-Verlag
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer-Verlag
Subjects
More information
Scope and Contents
Contents
BMP4
loss-of-function mutations and deletions have been shown to be associated with ocular, digital, and brain anomalies, but due to the paucity of these reports, the full phenotypic spectrum of human
BMP4
mutations is not clear. We screened 133 patients with a variety of ocular disorders for
BMP4
coding region mutations or genomic d...
Alternative Titles
Full title
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3178759
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3178759
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-011-0968-y
