Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (<i>RDH12</i>) Causes Familial Autosomal Dominant Retinitis Pigmentosa.

Sarkar, Hajrah; Dubis, Adam M; Downes, Susan; Moosajee, Mariya

Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa.

Sarkar, Hajrah; Dubis, Adam M; Downes, Susan; Moosajee, Mariya.

Afiliação

Sarkar H; Development, Ageing and Disease Theme, UCL Institute of Ophthalmology, London, United Kingdom.
Dubis AM; Development, Ageing and Disease Theme, UCL Institute of Ophthalmology, London, United Kingdom.
Downes S; Department of Genetics, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.
Moosajee M; Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford, United Kingdom.

Front Genet ; 11: 335, 2020.

Article em En | MEDLINE | ID: mdl-32322264

Palavras-chave

Leber congenital amaurosis; RDH12; adaptive optics; autosomal dominant; retinitis pigmentosa

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Etiology_studies Idioma: En Revista: Front Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido

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