Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
1 Online-Ressource.
- Language
-
Englisch
- Bibliographic citation
-
Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology ; day:11 ; month:1 ; year:2024 ; pages:1-8
Graefe's archive for clinical and experimental ophthalmology ; (11.1.2024), 1-8
- Creator
-
Vaclavik, Veronika
Navarro, Aurelie
Jacot-Guillarmod, Alain
Bottani, Armand
Sun, Young Joo
Franco, Joel A.
Mahajan, Vinit B.
Smirnov, Vasily
Bouvet-Drumare, Isabelle
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1007/s00417-023-06345-1
- URN
-
urn:nbn:de:101:1-2024032512523989896888
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:45 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
- Vaclavik, Veronika
- Navarro, Aurelie
- Jacot-Guillarmod, Alain
- Bottani, Armand
- Sun, Young Joo
- Franco, Joel A.
- Mahajan, Vinit B.
- Smirnov, Vasily
- Bouvet-Drumare, Isabelle
- SpringerLink (Online service)
Other Objects (12)
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
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
Best vitelliform macular dystrophy in a large Brazilian family
Pathophysiology of Age-Related Macular Degeneration: Implications for Treatment
Kabuki Tänzer
Kabuki theatre
Comments on “The possible pathogenesis of macular caldera in patients with North Carolina macular dystrophy”
Large, Spontaneous Macular Hole with Posterior Pole Detachment in a Patient with Best Vitelliform Macular Dystrophy
Deep learning to distinguish Best vitelliform macular dystrophy (BVMD) from adult-onset vitelliform macular degeneration (AVMD)
Kabuki : Japanisches Theater
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
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
Best vitelliform macular dystrophy in a large Brazilian family
Pathophysiology of Age-Related Macular Degeneration: Implications for Treatment
Kabuki Tänzer
Kabuki theatre
Comments on “The possible pathogenesis of macular caldera in patients with North Carolina macular dystrophy”
Large, Spontaneous Macular Hole with Posterior Pole Detachment in a Patient with Best Vitelliform Macular Dystrophy
Deep learning to distinguish Best vitelliform macular dystrophy (BVMD) from adult-onset vitelliform macular degeneration (AVMD)
Kabuki : Japanisches Theater
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
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
Best vitelliform macular dystrophy in a large Brazilian family
Pathophysiology of Age-Related Macular Degeneration: Implications for Treatment
Kabuki Tänzer
Kabuki theatre
Comments on “The possible pathogenesis of macular caldera in patients with North Carolina macular dystrophy”
Large, Spontaneous Macular Hole with Posterior Pole Detachment in a Patient with Best Vitelliform Macular Dystrophy
Deep learning to distinguish Best vitelliform macular dystrophy (BVMD) from adult-onset vitelliform macular degeneration (AVMD)