Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report.

De Geer, Karl; Mascianica, Katarzyna; Naess, Karin; Sardh, Eliane; Lindstrand, Anna; Björck, Erik

De Geer, Karl; Mascianica, Katarzyna; Naess, Karin; Sardh, Eliane; Lindstrand, Anna; Björck, Erik.

Afiliação

De Geer K; Department of Molecular Medicine and Surgery, Karolinska Institutet, 17177, Stockholm, Sweden. karl.de.geer@ki.se.
Mascianica K; Department of Clinical Genetics, Karolinska University Hospital, 17177, Stockholm, Sweden. karl.de.geer@ki.se.
Naess K; Vitreoretinal Department, St. Erik Eye Hospital, Stockholm, Sweden.
Sardh E; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 17176, Stockholm, Sweden.
Lindstrand A; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 17177, Stockholm, Sweden.
Björck E; Department of Molecular Medicine and Surgery, Karolinska Institutet, 17177, Stockholm, Sweden.

BMC Ophthalmol ; 23(1): 394, 2023 Sep 26.

Article em En | MEDLINE | ID: mdl-37752499

Assuntos

Mucolipidoses; Distrofias Retinianas; Masculino; Humanos; Adulto; Pessoa de Meia-Idade; Mucolipidoses/diagnóstico; Mucolipidoses/genética; Sequenciamento Completo do Genoma; Eletrorretinografia; Transferases (Outros Grupos de Fosfato Substituídos)

Palavras-chave

Case report; GNPTG; Inherited retinal dystrophy; Lysosomal disease; Mucolipidosis type III gamma; Retinitis pigmentosa; Whole genome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofias Retinianas / Mucolipidoses Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofias Retinianas / Mucolipidoses Idioma: En Ano de publicação: 2023 Tipo de documento: Article