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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...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted Manuscript

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Publisher copy:
10.1016/j.ejmg.2018.05.010

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Role:
Author
ORCID:
0000-0002-3929-3619
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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
Pubs id:
pubs:853169
URN:
uri:791360e9-24db-466b-8f9f-725824d48dab
UUID:
uuid:791360e9-24db-466b-8f9f-725824d48dab
Local pid:
pubs:853169

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