Multimorbidity due to novel pathogenic variants in the <i>WFS1/RP1/NOD2</i> genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn's disease in a British family.

Berry, Vanita; Ionides, Alexander; Georgiou, Michalis; Quinlan, Roy A; Michaelides, Michel

Multimorbidity due to novel pathogenic variants in the WFS1/RP1/NOD2 genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn's disease in a British family.

Berry, Vanita; Ionides, Alexander; Georgiou, Michalis; Quinlan, Roy A; Michaelides, Michel.

Afiliação

Berry V; Genetics, UCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK, London, UK v.berry@ucl.ac.uk michel.michaelides@ucl.ac.uk r.a.quinlan@durham.ac.uk.
Ionides A; Moorfields Eye Hospital NHS Foundation Trust, London, EC1V 2PD, UK, London, UK.
Georgiou M; Moorfields Eye Hospital NHS Foundation Trust, London, EC1V 2PD, UK, London, UK.
Quinlan RA; Genetics, UCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK, London, UK.
Michaelides M; Moorfields Eye Hospital NHS Foundation Trust, London, EC1V 2PD, UK, London, UK.

BMJ Open Ophthalmol ; 8(1)2023 07.

Article em En | MEDLINE | ID: mdl-37493686

Assuntos

Catarata; Doença de Crohn; Retinose Pigmentar; Humanos; Doença de Crohn/genética; Multimorbidade; Proteínas do Olho/genética; Retinose Pigmentar/epidemiologia; Catarata/epidemiologia; Proteína Adaptadora de Sinalização NOD2/genética; Proteínas Associadas aos Microtúbulos/genética

Palavras-chave

Genetics; Lens and zonules; Retina; Vision

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Doença de Crohn / Retinose Pigmentar Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google