Journal article icon

Journal article

Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – A EUROCAT study

Abstract:

Septo-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain. The clinical findings are visual impairment, hypopituitarism and developmental delays. The aim of this study was to report prevalence, associated anomalies, maternal age and other epidemiological factors from a large European population based network of congenital anomaly registries (EUROCAT). Data from 29 full member registries f...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

Actions


Access Document


Files:
Publisher copy:
10.1016/j.ejmg.2018.05.010

Authors


More by this author
Role:
Author
ORCID:
0000-0002-3929-3619
Expand authors...
Publisher:
Elsevier Publisher's website
Journal:
European Journal of Medical Genetics Journal website
Volume:
61
Issue:
9
Pages:
483-488
Publication date:
2018-05-10
Acceptance date:
2018-05-08
DOI:
ISSN:
1769-7212
Pmid:
29753093
Source identifiers:
853169
Language:
English
Keywords:
Pubs id:
pubs:853169
UUID:
uuid:791360e9-24db-466b-8f9f-725824d48dab
Local pid:
pubs:853169
Deposit date:
2018-08-14

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP