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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...
Autores principales: | Almeida, Filipa Tavares, Carneiro-Freitas, Rui, Caldas, Regina, Vieira, Ana Paula |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2018
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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 |
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