A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report

BACKGROUND: Blue Cone Monochromacy (BCM) is a rare congenital cone dysfunction disorder with X-linked recessive mode of inheritance. BCM is caused by mutations at the OPN1LW/MW cone opsin gene cluster including deletions of the locus control region (LCR) and/or parts of the gene cluster. We aimed at...

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Detalles Bibliográficos
Autores principales: Buena-Atienza, Elena, Nasser, Fadi, Kohl, Susanne, Wissinger, Bernd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019650/
https://www.ncbi.nlm.nih.gov/pubmed/29940872
http://dx.doi.org/10.1186/s12881-018-0623-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019650/
https://www.ncbi.nlm.nih.gov/pubmed/29940872
http://dx.doi.org/10.1186/s12881-018-0623-8

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