High myopia and vitreal veils in a patient with Poretti- Boltshauser syndrome due to a novel homozygous <i>LAMA1</i> mutation.

Faizi, Nawid; Casteels, Ingele; Termote, Bruno; Coucke, Paul; De Baere, Elfride; De Bruyne, Marieke; Balikova, Irina

High myopia and vitreal veils in a patient with Poretti- Boltshauser syndrome due to a novel homozygous LAMA1 mutation.

Faizi, Nawid; Casteels, Ingele; Termote, Bruno; Coucke, Paul; De Baere, Elfride; De Bruyne, Marieke; Balikova, Irina.

Afiliação

Faizi N; Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium.
Casteels I; Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium.
Termote B; Department of Radiology, Jessa Hospital Hasselt, Hasselt, Belgium.
Coucke P; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
De Baere E; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
De Bruyne M; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Balikova I; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.

Ophthalmic Genet ; 43(5): 653-657, 2022 10.

Article em En | MEDLINE | ID: mdl-35535551

Assuntos

Ataxia Cerebelar; Síndrome de Cogan; Miopia; Apraxias/congênito; Humanos; Mutação; Miopia/genética; Linhagem

Palavras-chave

High myopia; PorettiBoltshauser syndrome; autosomal recessive disorder; cerebellar cysts; retinal dystrophy

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Síndrome de Cogan / Miopia Limite: Humans Idioma: En Revista: Ophthalmic Genet Ano de publicação: 2022 Tipo de documento: Article

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