Optic nerve hypoplasia in a patient with a de novo KIF1A heterozygous mutation

Journal article

Open access

Peer reviewed

Lina Raffa, Marie-Pierre Matton, Jacques Michaud, Elsa Rossignol, Jean-Claude Decarie and Luis H Ospina

Canadian journal of ophthalmology, Vol.52(5), pp.e169-e171

01/10/2017

PMID: 28985824

Abstract

Atrophy - genetics

Cerebellum - diagnostic imaging

Cerebellum - pathology

Exome - genetics

Eye Abnormalities - diagnostic imaging

Eye Abnormalities - genetics

Heterozygote

Humans

Infant

Kinesin - genetics

Magnetic Resonance Imaging

Male

Mutation, Missense

Optic Nerve - abnormalities

url

https://doi.org/10.1016/j.jcjo.2017.02.021View

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Title: Optic nerve hypoplasia in a patient with a de novo KIF1A heterozygous mutation
Creators - without role: Lina Raffa - Centre Hospitalier Universitaire Sainte-Justine
Marie-Pierre Matton - Centre Hospitalier Universitaire Sainte-Justine
Jacques Michaud - Centre Hospitalier Universitaire Sainte-Justine
Elsa Rossignol - Centre Hospitalier Universitaire Sainte-Justine
Jean-Claude Decarie - Centre Hospitalier Universitaire Sainte-Justine
Luis H Ospina - Centre Hospitalier Universitaire Sainte-Justine
Publication Details: Canadian journal of ophthalmology, Vol.52(5), pp.e169-e171
Identifiers: 9937042008331
Academic Unit: King Abdulaziz University
Language: English
Resource Type: Journal article