A novel homozygous variant in the <i>SPG7</i> gene presenting with childhood optic nerve atrophy.

Eriksen, Kathrine O; Wigers, Andreas Reidar; Wedding, Iselin Marie; Erichsen, Anne Kjersti; Barøy, Tuva; Søberg, Kristoffer; Jørstad, Øystein Kalsnes

A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy.

Eriksen, Kathrine O; Wigers, Andreas Reidar; Wedding, Iselin Marie; Erichsen, Anne Kjersti; Barøy, Tuva; Søberg, Kristoffer; Jørstad, Øystein Kalsnes.

Afiliação

Eriksen KO; Department of Ophthalmology, Oslo University Hospital, Norway.
Wigers AR; Department of Ophthalmology, Oslo University Hospital, Norway.
Wedding IM; Department of Neurology, Oslo University Hospital, Norway.
Erichsen AK; Department of Ophthalmology, Oslo University Hospital, Norway.
Barøy T; Department of Medical Genetics, Oslo University Hospital, Norway.
Søberg K; Department of Medical Genetics, Oslo University Hospital, Norway.
Jørstad ØK; Department of Ophthalmology, Oslo University Hospital, Norway.

Am J Ophthalmol Case Rep ; 26: 101400, 2022 Jun.

Article em En | MEDLINE | ID: mdl-35243150

Palavras-chave

Hereditary optic neuropathy; Hereditary spastic paraplegia; Optic nerve atrophy; SPG7 gene; Spastic paraplegia 7

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Am J Ophthalmol Case Rep Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Noruega

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