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Hypotrichosis with Juvenile Macular Dystrophy

Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disease, characterized by hypotrichosis and progressive macular degeneration, leading to blindness in the first three decades of life. It is associated with mutations in the cadherin 3 gene, resulting in the abnormal express...

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Detalles Bibliográficos
Autores principales: Almeida, Filipa Tavares, Carneiro-Freitas, Rui, Caldas, Regina, Vieira, Ana Paula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290288/
https://www.ncbi.nlm.nih.gov/pubmed/30607044
http://dx.doi.org/10.4103/ijt.ijt_60_18