New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1471-2350
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report ; volume:18 ; number:1 ; day:7 ; month:1 ; year:2017 ; pages:1-6 ; date:12.2017
BMC medical genetics ; 18, Heft 1 (7.1.2017), 1-6, 12.2017
- Keyword
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Augenheilkunde
Augenkrankheit
- Creator
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Blanco-Kelly, Fiona
- Contributor
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Rodrigues-Jacy da Silva, Luciana
Sánchez-Navarro, Iker
Riveiro-Alvarez, Rosa
Lopez-Martinez, Miguel Angel
Corton, Marta
Ayuso, Carmen
SpringerLink (Online service)
- DOI
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10.1186/s12881-016-0364-5
- URN
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urn:nbn:de:1111-20170206345
- Rights
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:58 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Blanco-Kelly, Fiona
- Rodrigues-Jacy da Silva, Luciana
- Sánchez-Navarro, Iker
- Riveiro-Alvarez, Rosa
- Lopez-Martinez, Miguel Angel
- Corton, Marta
- Ayuso, Carmen
- SpringerLink (Online service)
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Best vitelliform macular dystrophy in a large Brazilian family
Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report
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Atypical vitelliform macular dystrophy misdiagnosed as chronic central serous chorioretinopathy: case reports
Association of Optic Nerve Head Drusen with Best Vitelliform Macular Dystrophy: A Case Series
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Histological findings of corneal tissue after failed phototherapeutic keratectomy in macular corneal dystrophy – a case report
Steinert's myotonic dystrophy: a case report
Varied clinical presentations of RP1L1 variants in Chinese patients: a study of occult macular dystrophy and vitelliform macular dystrophy
Fixation behavior in macular dystrophy assessed by microperimetry
The possible pathogenesis of macular caldera in patients with North Carolina macular dystrophy
Infantile neuroaxonal dystrophy (INAD): a case report