A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature

Ophthalmic Genet. 2017 Dec;38(6):590-592. doi: 10.1080/13816810.2017.1318927. Epub 2017 May 4.

Authors

Claudio Graziano¹, Elena Gusson², Giulia Severi¹, Federica Isidori¹, Anita Wischmeijer³, Milena Brugnara⁴, Marco Seri¹, Cesare Rossi¹

Affiliations

¹ a Medical Genetics Unit , Policlinico S. Orsola-Malpighi , Bologna , Italy.
² b University Eye Clinic, Pediatric Ophtalmology Service, Department of Neurosciences , Biomedicine and Movement, University of Verona , Verona , Italy.
³ c Clinical Genetics Service, Department of Pediatrics , Regional Hospital of South Tyrol , Bolzano , Italy.
⁴ d Department of Pediatrics , University of Verona , Verona , Italy.

PMID: 28471317
DOI: 10.1080/13816810.2017.1318927

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Child, Preschool
Coloboma / genetics*
Humans
Iris / abnormalities
Male
Mutation, Missense*
Optic Nerve / abnormalities
Pedigree
Persistent Hyperplastic Primary Vitreous / genetics*
RNA Splicing Factors / genetics*
Repressor Proteins / genetics*
Retina / abnormalities

Substances

RNA Splicing Factors
Repressor Proteins
poly-U binding splicing factor 60KDa