Publication
Hypotrichosis with Juvenile Macular Dystrophy
| dc.contributor.author | Almeida, FT | |
| dc.contributor.author | Carneiro-Freitas, R | |
| dc.contributor.author | Caldas, R | |
| dc.contributor.author | Vieira, AP | |
| dc.date.accessioned | 2019-01-18T12:21:25Z | |
| dc.date.available | 2019-01-18T12:21:25Z | |
| dc.date.issued | 2018 | |
| dc.description.abstract | 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 expression of P-cadherin. We report a case of a 4-year-old female patient diagnosed with this genodermatosis. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Int J Trichology. 2018 Sep-Oct;10(5):234-236. | pt_PT |
| dc.identifier.doi | 10.4103/ijt.ijt_60_18 | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.23/1298 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.subject | Hipotricose | pt_PT |
| dc.subject | Degeneração Macular | pt_PT |
| dc.title | Hypotrichosis with Juvenile Macular Dystrophy | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.issue | 5 | pt_PT |
| oaire.citation.startPage | 234-236 | pt_PT |
| oaire.citation.volume | 10 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |
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