Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy

Hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder that causes childhood visual impairment. HJMD is caused by mutations in CDH3 which encodes cadherin-3, a protein expressed in retinal pigment epithelium (RPE) cells that may have a key role in intercellular adhes...

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Detalles Bibliográficos
Autores principales: Singh, Mandeep S., Broadgate, Suzanne, Mathur, Ranjana, Holt, Richard, Halford, Stephanie, MacLaren, Robert E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4860587/
https://www.ncbi.nlm.nih.gov/pubmed/27157923
http://dx.doi.org/10.1038/srep23674

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4860587/
https://www.ncbi.nlm.nih.gov/pubmed/27157923
http://dx.doi.org/10.1038/srep23674

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