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Noncongenital juvenile-onset bilateral lamellar cataract in 1p36 deletion syndrome

Danese C.
•
Pignatto S.
•
Lanzetta P.
2021
  • journal article

Periodico
JOURNAL OF AAPOS
Abstract
We report the case of a 16-year-old girl with 1p36 deletion syndrome, who experienced visual loss in both eyes for 2 months because of lamellar cataracts. Mutations on some 1p36 genes in both experimental models and humans may be associated with cataract. This is the first detailed description of acquired juvenile-onset bilateral cataract with 1p36 deletion.
DOI
10.1016/j.jaapos.2021.07.003
Archivio
http://hdl.handle.net/11390/1214474
info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85117700851
https://ricerca.unityfvg.it/handle/11390/1214474
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