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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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Dades bibliogràfiques
Publicat a:Sci Rep
Autors principals: Singh, Mandeep S., Broadgate, Suzanne, Mathur, Ranjana, Holt, Richard, Halford, Stephanie, MacLaren, Robert E.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4860587/
https://ncbi.nlm.nih.gov/pubmed/27157923
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep23674
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