Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a Novel
COL4A1
Cataract
Corpus callosum agenesis
Optic nerve hypoplasia
Journal
Case reports in ophthalmology
ISSN: 1663-2699
Titre abrégé: Case Rep Ophthalmol
Pays: Switzerland
ID NLM: 101532006
Informations de publication
Date de publication:
Historique:
received:
17
11
2019
accepted:
26
11
2019
entrez:
23
1
2020
pubmed:
23
1
2020
medline:
23
1
2020
Statut:
epublish
Résumé
We report the case of a girl with a novel mutation of the
Identifiants
pubmed: 31966034
doi: 10.1159/000505017
pii: cop-0010-0424
pmc: PMC6959118
doi:
Types de publication
Case Reports
Langues
eng
Pagination
424-430Informations de copyright
Copyright © 2019 by S. Karger AG, Basel.
Déclaration de conflit d'intérêts
L. Grego, S. Pignatto, N. Rassu, E. Passone, P. Cogo: no conflicts of interest. P. Lanzetta: Bayer, Centervue, Novartis Pharma AG.
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